# disease info

info:
What is it?
A UTI is an infection of one or more parts of the urinary tract. The urinary tract consists of two kidneys, two ureters, a bladder, and a urethra. The kidneys are bean-shaped organs found in the lower back below the ribcage. They filter waste out of the blood and produce urine to carry the waste and excess water out of the body. The urine is carried through the ureters (tubes) from the kidneys to the bladder. The bladder is a hollow muscular organ that stores urine for a short time period. The bladder stretches as urine accumulates and at a certain point it signals to the body that it needs to relieve the growing pressure. A muscular valve (sphincter) at the opening of the bladder is relaxed and the bladder contracts to send urine through the urethra (a tube linking the bladder to the external surface of a persons skin) and out of the body. 

A UTI is sometimes referred to by the part of the urinary tract affected. Inflammation of the urethra (usually due to an infection but sometimes due to irritation), is called urethritis. If the bladder becomes involved it is referred to as cystitis, and if the kidneys are inflamed it is called pyelonephritis. Frequently, the blanket term UTI will be used by your doctor, because there is not a simple test that can tell exactly how much of the urinary tract is infected. 

Urine does not normally contain microorganisms, but if it is obstructed from leaving the body or retained in the bladder it provides a good environment for bacteria to grow. Most urinary tract infections are due to bacteria that are introduced into the opening of the urethra. They stick to the walls of the urethra, multiplying and moving up the urethra to the bladder. Most UTIs remain in the lower urinary tract (urethra or bladder) where they cause annoying symptoms, such as a burning sensation during urination, but are more easily treated. While these infections are easily treated in most cases, if inadequately treated, the infection may spread up through the ureters, and into the kidneys. A kidney infection is more dangerous, and can lead to permanent kidney damage - especially in young children and the elderly, in those with diabetes and those with other underlying kidney diseases. In some cases a urinary tract infection may lead to an infection in the bloodstream (sepsis, septicaemia) that can be life-threatening. Rarely, a bloodstream infection can enter the kidneys and bacteria can enter the urine from this route.


Although a variety of bacteria can cause UTIs, most (80 to 90 percent) are due to Eschericia coli, a bacterium that is common in the gastrointestinal tract and is routinely found in faeces. Other bacteria that may cause UTIs include species of: Proteus, Klebsiella, Enterococcus and Staphylococcus. Occasionally, a UTI may be due to a yeast, such as Candida albicans; urethritis is often due to a sexually transmitted disease such as herpes, chlamydia, or gonorrhea. 

Although anyone at any age can have a UTI, women are much more likely than men to have them. It is thought that this is partly anatomical, because a woman’s urethra is shorter (less distance for bacteria to travel) and because their anus and vagina are relatively close to the urethra. Anything that slows down the passage of the urine, blocks it, or introduces bacteria into the urinary tract can raise a patient’s risk of having a UTI. Conditions that cause an increased risk for developing a UTI include: 

Anatomical problems (such as narrowing of the urethra or ureters) 

Urine retention (the bladder does not empty completely) 

Vesicoureteral reflux (the abnormal flow of urine from the bladder back to the ureters 

Kidney stones 

Bladder catheterisation (especially long term) 

Spinal cord injuries 

Diabetes (it causes changes to the immune system, damage to the kidneys and often results in sugar in the urine – promoting the growth of bacteria) 

Kidney disease 

Any condition that suppresses the immune system 

In men, an enlarged prostate may reduce the flow of urine. 


What are the signs and symptoms?
Although UTI symptoms vary, many people will experience: 

A strong, persistent desire to urinate, 

A burning sensation during urination, 

A cloudy strong-smelling urine. 

Lower back pain 


Those with UTIs may also have pressure in the lower abdomen and small amounts of blood in the urine. If the UTI is more severe and/or has spread into the kidneys, it may cause flank pain, high fever, shaking, chills, nausea or vomiting. Fevers are also seen when the infection spreads into the blood (sepsis). Some patients may also experience mental changes and confusion with a UTI, while others may not have any symptoms at all. 

What are the complications?
In most cases UTIs are acute and uncomplicated. They are treated and the symptoms subside within a day or two. UTIs that spread to the kidneys, however, may cause permanent kidney damage, especially in the elderly and the very young. Conditions or diseases that result in chronic or recurrent UTIs may also damage to the kidneys and in some cases cause kidney failure. Kidney failure and sepsis (infection of the blood) can be life-threatening conditions. They require immediate treatment – which often involves hospitalisation. In pregnant women, a UTI can lead to premature labour and delivery and cause high blood pressure. In men, a UTI can cause prostate infection and inflammation, which can be difficult to treat. 



                                        
                                        
    
        
            
                

                

                
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Tests
Most UTIs are detected by performing a urinalysis.  Treatment may be started at this stage.  If symptoms persist, UTI may be confirmed with a urine culture. If there are pathogenic bacteria present, then susceptibility testing is done to make sure that the antibiotic that your doctor chooses will have good activity against the microorganism causing your infection. If your doctor suspects that your infection may have spread to your bloodstream, he may refer you to hospital where they will take a blood sample for culture. If your doctor suspects that you may have a sexually transmitted disease, such as chlamydia or gonorrhoea – which may cause some of the same symptoms as a bacterial UTI – he may do additional special testing to identify them. 

In the case of recurrent or chronic urinary tract infections, other laboratory tests such as glucose (to check for diabetes), or U&E and creatinine (to evaluate your kidney function) may also be done. Imaging scans and special X-rays may also be used to look for anatomical problems and/or signs of an underlying disease or condition. 

Laboratory Tests
Urinalysis. A clean catch (midstream) sample collection is important to minimise sample contamination by skin cells and bacteria (and, in the case of women, contamination by normal vaginal bacteria). The patient should clean their urogenital area thoroughly with soap (not anti-bacterial) and water before providing a urine specimen. White blood cells (WBC, leukocytes), red blood cells (RBC), nitrites, and bacteria in the urinalysis may indicate a UTI. 

Urine Culture. Urine is streaked on a thin layer of nutrient gel (agar plate), then incubated for 24-48 hours. Any bacteria that grow on the agar are counted and identified. Usually if a person has a UTI, there will be a high colony count of one type of bacterium that will be present. If there are three or more types of bacteria present (or in a woman if there are vaginal bacteria, such as lactobacillus or diphtheroids) then it is considered to be a contaminated sample and no further work is done on the culture. A repeat sample may need to be submitted if the patient`s symptoms persist. If there is a predominant growth of one type of bacterium present in high number, then susceptibility testing is done (sometimes the doctor may refer to it as “sensitivity” testing). The ability of different antibiotics to inhibit the growth of the bacteria in a test tube or on an agar plate predicts which antibiotics will work best in the patient. 

Blood Culture. Two samples of blood are taken to look for any bacteria in the blood, which is normally sterile. The blood samples are incubated in a broth medium at body temperature and examined at regular intervals for bacterial growth. Although most infections will be detected within 24 to 48 hours, if the number of bacteria is low or the microorganism is slow growing, it could take longer. Blood cultures are kept and monitored for five days. When a patient is septic from a urinary tract infection, the same microorganism is found in both the blood and the urine cultures. Susceptibility testing will provide information on which antibiotic will eradicate the pathogen from both the blood and the urine. 

Non-Laboratory Tests
If you have recurrent or chronic UTIs, your doctor may request one or more of the following procedures. Several may be required as they each give your doctor different information. 

Kidney and bladder ultrasound, uses sound waves to determine the structures of the bladder and the kidney, they can be seen as light and shadowed areas. 

Voiding cystourethrogram (VCUG), an x-ray test that examines the urethra and bladder while the bladder fills and empties 

Nuclear scans, several types may be used to examine the function and shape of the bladder and kidneys. For each scan type a radioactive dye is injected into a vein. The dye is carried to the bladder and kidney, allowing the visualization of any structural abnormalities. 

Cystoscopy, a flexible tube about the diameter of a straw is threaded up the urethra and into the bladder. It allows your doctor to look at the surface of the inside of urethra and bladder. It can help identify blockages and abnormalities. If a stone is present, other instruments can be inserted up through the cystoscope that may allow a stone to be removed or broken into smaller pieces with a laser. Urine and tissue sample can also be taken using the cystoscope. 

Intravenous pyelogram (IVP), used to look at the whole urinary tract. An opaque dye is injected into a vein, then travels to the kidney and bladder. A series of x-rays are taken which may reveal obstructions or structural abnormalities



                                        
                                        
    
        
            
                
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Prevention
Prevention of a UTI depends on keeping the urine moving through your system and avoiding bacterial contamination of the urethra. Recommendations include: 

Drink plenty of water every day to flush out your urinary system 

Urinate as you need to, don’t hold urine in for extended periods of time 

After a bowel movement wipe yourself from front to back to keep faeces bacteria away from the urethra 

Avoid irritants to the urethra if you are prone to recurrent UTIs – avoid bubble baths, take showers instead of baths, and rinse soap off thoroughly 

Urinate after sexual intercourse, this may help rinse out any bacteria that may have come in contact with the urethra 

Avoid tight clothing and wear cotton underwear – it breathes and won’t trap moisture like some synthetic fibres 

Drink cranberry juice – some doctors recommend this to their patients. It may help prevent bacteria from sticking to the walls of the urethra. 




                                        
                                        
    
        
            
                
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What is it?
Vasculitis refers to a rare group of conditions where there is inflammation of blood vessels. There are various different types of vasculitis, which can be classified either according to the size of the blood vessels damaged or according to the part of the body affected, and also whether there is any underlying disease. It is also useful to know whether the patient has the ANCA (anti-neutrophil cytoplasmic) antibody in the blood. Vasculitis can be divided accordingly in various ways:

Classifications

Whether it is localised or generalised

Vessel size

Underlying cause (e.g. drugs, infection, lupus (SLE), rheumatoid arthritis)

Whether the ANCA test is positive


There is a group of vasculitic conditions known as primary systemic vasculitis, so called because they affect the whole body (systemic), and are primary (there is no underlying condition). Examples of these conditions are Wegener’s granulomatosis, microscopic polyarteritis/polyangiitis and Churg-Strauss syndrome.

Vessel size ANCA-positive ANCA-negative
Large
Giant cell arteritis
Takayasu’s arteritis
Medium
Polyarteritis nodosa
Kawasaki’s disease
Small
Wegener’s granulomatosis
Microscopic polyarteritis
Churg-Strauss syndrome
Henoch-Schonlein purpura
Hypersensitivity vasculitis
Cryoglobulinaemic vasculitis

                                        
                                        
    
        
            
                

                

                
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Symptoms
Symptoms of vasculitis can be non-specific and this can be why vasculitis may be difficult to diagnose in some cases. Symptoms may include general tiredness, loss of appetite, weight loss and fevers. More specific symptoms include bleeding from the nose, excessive nasal crusting, sinus pains, collapse of the nasal bridge in advanced cases, cough, coughing up blood, breathlessness, rashes, joint pains, numbness and tingling in the hands or feet.  Vasculitis may also affect the kidneys, but this may often go undetected until the kidney damage is quite advanced. Involvement of the kidney carries a worse outlook.



                                        
                                        
    
        
            
                
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Tests:
Testing
Initial testing may involve:

Full Blood Count (FBC) – this test is used to look for complications of the disease and its treatment. It evaluates the patient’s red cells and haemoglobin concentration (reduced in anaemia) and checks the white blood cell count which can be increased in infection, and reduced with some treatments

Erythrocyte sedimentation rate (ESR) – this test indicated the presence of inflammation in the body and helps monitor the activity of the disease 

C-reactive protein test (CRP) - this test also indicates inflammation and tests for activity of the disease.

Urea & electrolytes / creatinine – assessment of kidney function

Liver function tests (LFT) – assessment of liver function

Urine dipstick, microscopy – looks for presence of protein, red and white cells in the urine, which can indicate inflammation in the kidney

ANCA – anti-neutrophil cytoplasmic antibody is an useful marker for primary systemic vasculitis conditions


Subsequent testing may involve:

Tissue biopsy – the gold standard test for diagnosis of vasculitis is to take a biopsy of affected organ e.g. skin, kidney, nerve

Radiological imaging can be helpful e.g. chest x-ray, CT scan chest, sinuses

Nerve conduction studies or nerve biopsy may be useful if there are symptoms of numbness or tingling

In some types of vasculitis, examination of the blood vessels by angiography can be useful such as angiography of the bowel in polyarteritis nodosa


The blood tests will enable the doctor to assess whether there is any inflammation in the blood which would suggest vasculitis, and importantly the urine tests will help assess whether there is kidney damage.

In the 1980’s, a new blood test was introduced which was associated with a number of vasculitic conditions, in particular the group of primary systemic vasculitis mentioned above. The ANCA antibodies are directed against a blood cell called the neutrophil and more particularly against the cytoplasm (the inner part) of the cell. While this is a helpful test, we now know that it is not diagnostic by itself. Tissue biopsy remains very important and is still the gold standard to diagnose vasculitis.



                                        
                                        
    
        
            
                
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Overview
															
														
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What is it?
B12 and folate are B complex vitamins that are necessary for normal red blood cell formation, tissue and cellular repair, and DNA synthesis. A B12 and/or folate deficiency reflects a chronic shortage of one or both of these vitamins. Since the body stores 3 to 5 years’ worth of B12 and several months’ supply of folate in the liver, deficiencies and their associated symptoms can take months to years to manifest in adults. Infants and children will show signs of deficiency more rapidly, however, as they have not yet established extensive reserves.  

Over time, a deficiency in either B12 or folate can lead to macrocytic anaemia, a condition characterised by the production of fewer, but larger red blood cells and a decreased ability to carry oxygen. Due to the anaemia, patients may be weak, light-headed, fatigued and short of breath. A deficiency in B12 can also result in varying degrees of neuropathy, nerve damage that can cause tingling and numbness in the patient’s hands and feet and mental changes that range from confusion and irritability to severe dementia. 

Pregnant women need increased amounts of folate for proper fetal development. If a woman has a folate deficiency prior to pregnancy, it will be intensified during gestation and may lead to premature birth and neural tube birth defects, such as spina bifida, in the child.

 



                                        
                                        
    
        
            
                

                

                
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Overview
															
														
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																Symptoms
															
														
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																Causes
															
														
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Symptoms
The symptoms associated with B12 and folate deficiency are frequently subtle and nonspecific. They are related to the resulting macrocytic anaemia, nerve involvement, and gastrointestinal changes. Patients with an early deficiency may be diagnosed before they experience any overt symptoms. Other affected patients may experience a variety of mild to severe symptoms that can include:
Confusion 

Paranoia 

Diarrhoea 

Dizziness 

Fatigue, weakness 

Loss of appetite 

Malabsorption 

Pallor

Rapid heart rate 

Shortness of breath 

Sore tongue and mouth 

Tingling, numbness, and/or burning in the feet, hands, arms, and legs (with B12)



                                        
                                        
    
        
            
                
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Overview
															
														
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																Symptoms
															
														
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Causes
B12 and folate deficiency may be due to insufficient intake, inadequate absorption, increased loss, or to increased need. Folate (also called folic acid) is found in leafy green vegetables, citrus fruits, dry beans, yeast, and fortified cereals. B12 is found in animal proteins such as red meat, fish, poultry, milk, eggs, and in fortified cereals. Deficiency due to insufficient intake of B12 is uncommon but may be seen in complete vegetarians (who do not consume any animal products) and their breast-fed infants.
B12 deficiency can be caused by insufficient stomach acid - necessary to separate B12 from ingested protein. This is the most common cause of B12 deficiency in the elderly and individuals on drugs that suppress gastric acid production. Deficiency may also be due to a lack of intrinsic  factor, a substance produced by parietal cells in the stomach that binds to B12 to enable absorption by the intestines. An autoimmune condition called pernicious anaemia involves damage to the parietal cells, resulting in decreased production of intrinsic factor. 

Both B12 and folate deficiencies can also arise with diseases or conditions that cause general malabsorption, such as: coeliac disease - an intolerance to gluten – found in edible grasses such as wheat, barley, rye and oats - that causes inflammation and malabsorption, bacterial overgrowth in the stomach and intestines, or surgery that removes part of the stomach, and the parietal cells, or the intestines.

chronic disorders such as liver or kidney disease, and alcoholism can lead to decreased levels of B12 or folate, as can medications such as phenytoin, metformin (diabetic therapy), or methotrexate (an arthritis treatment).

All pregnant women need increased amounts of folate for proper fetal development. Any deficiencies that are present prior to pregnancy will intensify during gestation. Folate deficiency in pregnancy has been associated with neural tube defects (spina bifida).



                                        
                                        
    
        
            
                
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What is vitamin K?
Vitamin K is a nutrient that the body requires in small, regular amounts. It is essential for the formation of several substances called coagulation factors that work together to clot the blood when injuries to blood vessels occur. Insufficient vitamin K can lead to excessive bleeding and easy bruising. Vitamin K is also thought to play an important role in the prevention of bone loss. A low concentration of vitamin K within the bloodstream  has been associated with low bone density, and there is some evidence that adequate concentrations of vitamin K can improve bone health while reducing the risk of fractures.

There are two natural forms of vitamin K:

Vitamin K1 (phylloquinone or phytomenadione) is the natural from of vitamin K that comes from foods, especially green leafy vegetables but also dairy products and vegetable oils. K1 is considered as the ``plant form`` of vitamin K, but it is also produced commercially to treat some conditions associated with excess bleeding.

Vitamin K2 (menaquinones) is made by bacteria, the normal flora in the intestines. Bacteria in the intestines can also convert K1 into K2. Vitamin K2 supplements K1 from the diet to meet the body`s requirements.


Since the body is not able to produce a sufficient amount of vitamin K, a certain amount must be taken in through the diet. It is present in a wide variety of foods, and the normal diet in the  U.K. typically supplies enough. Examples of different foods that contain high amounts, often more than the Recommended Daily Allowance (RDA), include leafy green vegetables such as kale, collards, spinach, turnip greens, mustard greens, green leaf lettuce, and other vegetables such as broccoli, green onions, parsley, asparagus, Brussels sprouts, and cabbage. Other sources include dairy products, cereals, vegetable oils, and soybeans. K1 and K2, the types provided by the diet and produced by the body, are both fat-soluble and are stored in the body`s fat tissue and in the liver. An adult typically stores about a week`s worth of vitamin K.

Interactions with the anticoagulant drug warfarin

People who are on the anticoagulant drug warfarin (COUMADIN®) must be careful of the amount of vitamin K present in the foods that they eat. Vitamin K is an antagonist to warfarin. This means that it counteracts the action of warfarin, reverses its drug activity, and makes it less effective in treating the condition for which it is prescribed. Warfarin is given to people with a variety of conditions such as deep vein thrombosis (DVT) and cardiovascular disease (CVD) to ``thin`` their blood and prevent inappropriate clotting. The drug works by inhibiting production of vitamin K-dependent clotting factors. Warfarin affects people differently and must be carefully monitored, typically with a prothrombin time (PT) test that gives results as an INR (International Normalised Ratio) value. The INR must be kept within a narrow therapeutic range. Too little warfarin can result in dangerous blood clots, but too much can cause bleeding episodes. Rather than avoid foods rich in vitamin K, it is more important for people on this drug to consume a consistent amount of vitamin K each day. Significant increases or decreases in vitamin K can affect how warfarin works in their bodies.



                                        
                                        
    
        
            
                

                

                
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Causes of Vitamin K Deficiency
The most common causes of vitamin K deficiency are insufficient dietary intake, inadequate absorption, and decreased storage of the vitamin due to liver disease, but it may also be caused by decreased production in the intestines.

In the  U.K., dietary deficiency of vitamin K is rare in healthy individuals but is relatively common in those who are severely ill or who have certain chronic conditions. For example, it is often seen in patients admitted to intensive care units, cancer patients on chemotherapy, chronic dialysis patients, and patients who are at risk for malnutrition, such as those with a poor diet associated with alcohol or drug abuse.

Malabsorption, especially impaired absorption of fats due to diseases such as cystic fibrosis, coeliac disease, chronic pancreatitis or Crohns disease, may cause vitamin K deficiency. Cholestatic liver diseases such as a bile duct obstruction or primary biliary cirrhosis can also lead to malabsorption and a deficiency in vitamin K.

Some medications, such as antibiotics, antacids, and anti-seizure medications can interfere with the absorption of vitamin K1, decrease the quantity of K2 produced in the intestines, or cause degredation of vitamin K. High doses of aspirin may increase vitamin K requirements.

Deficiencies in newborns are associated with haemorrhagic disease of the newborn (also called vitamin K deficiency bleeding or VKDB). This can cause bleeding and bruising and, in severe cases, can lead to fatal bleeding into the brain. VKDB used to be a relatively common occurrence as newborns have small stores of vitamin K when they are born, their intestines do not yet have established normal flora, and breast milk does not provide them with much vitamin K. In addition, if the newborn`s mother takes certain drugs during pregnancy, such as anti-seizure medications, then the infant may be vitamin K-deficient at birth. These situations have now been largely resolved with the routine practice of administering a vitamin K injection to all newborns shortly after birth. Intramuscular administration of vitamin K is to be avoided in newborn babies at a high risk of bleeding disorders and other routes of administration need to be considered. When surgery is  necessary, the infants may also be given vitamin K before the procedure to prevent excessive bleeding.




                                        
                                        
    
        
            
                
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Signs and Symptoms
The signs and symptoms associated with vitamin K deficiency may include:

Easy bruising

Oozing from nose or gums

Excessive bleeding from wounds, punctures, and injection or surgical sites

Heavy menstrual periods

Bleeding from the gastrointestinal (GI) tract

Blood in the urine and/or stool

Increased prothrombin time (PT)


In haemorrhagic disease of the newborn, signs and symptoms may be similar to those listed above but, in more serious cases, may also involve bleeding within the skull (intracranial).

A deficiency of vitamin K may be suspected when symptoms listed above appear in someone who is at an increased risk, such as:

Those who have a chronic condition associated with malnutrition or malabsorption

Those who have been on long-term treatment with antibiotics; the antibiotics can kill the bacteria that aid in the production of vitamin K2 in the small intestine.

Seriously ill patients such as cancer or dialysis patients or those in intensive care units




                                        
                                        
    
        
            
                
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What is it?
West Nile Virus (WNV) was first discovered as a cause of an infectious disease in Uganda, Africa in 1937. It then spread to the Middle East, Eastern Europe, West Asia and, more recently, the United States. It is a very uncommon condition in the UK, with only 2 cases recorded since 2002, both of which being associated with travel to Canada. 

WNV belongs to a group of disease-causing viruses known as flaviviruses. These lipid (fat)-enveloped viruses can be spread by insects, usually mosquitoes, to animals, including humans. Most human infections are mild, although in some cases serious illness such as encephalitis can result from infection. It is not contagious person-to-person.

The most common route of transmission is through a mosquito bite. When a mosquito bites an infected bird, such as a crow (crows are highly susceptible to infection), it can then transmit the virus to another animal it bites. Transmission of the virus commonly peaks during early spring when adult mosquitoes emerge and continues until autumn. It is estimated that 1 in 200 mosquitoes in the US harbours the virus.

There also has been some recent concern about transmission of WNV through donated blood or organs, as seems to have occurred in the case of four organ transplant recipients.   



                                        
                                        
    
        
            
                

                

                
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Symptoms
About one in five (20%) of those who are infected with WNV will experience symptoms. These usually are described as flu-like, with fever, gastrointestinal problems, headache, and body ache as well as potentially skin rash and swollen lymph glands. These symptoms typically last for only a few days and have no long-term health impact.

Less than 1% (about 1 in 150) of those infected will develop more serious disease, in which there is brain involvement. This can lead to life-threatening encephalitis (inflammation of the brain) and/or meningitis (inflammation of the lining of the brain and spinal cord). Symptoms include high fever, extreme muscle weakness, neck stiffness, stupor, disorientation, coma, tremors, and convulsions. The fatality rate ranges from 3-15% and is highest among the elderly. Individuals with compromised immune systems also seem to be at increased risk of severe disease.

The clinical presentation of paralysis in some individuals is reminiscent of that seen in the past with the polio virus. However, WNV is not in the same family of viruses. There is no explanation for this as of yet.



                                        
                                        
    
        
            
                
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Tests
Testing of samples is carried out by arrangement, via the local microbiology laboratory, at the Special Pathogens Reference Unit, HPA Porton Down.

The virus or its RNA can be detected in serum, cerebrospinal fluid (CSF), or other tissues using a method called polymerase chain reaction (PCR). However, this method is not currently recommended because of its low sensitivity. A better option is to use an antibody-capture assay, which can detect IgM antibody, the body`s immune response to the virus, in spinal fluid and serum - usually within one week of the onset of illness. Further testing of serum samples is recommended to confirm a diagnosis of WNV using virus-neutralisation tests.

Diagnosis usually is made through review of the patient`s symptoms and exposure and confirmed by testing the patient`s blood and CSF at the public health laboratory.



                                        
                                        
    
        
            
                
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Also known as: Hepatolenticular Degeneration


                                                
                                            

What is it?
Wilson’s disease is an inherited disease in which abnormal copper metabolism results in excessive storage of copper particularly in the liver and brain. It is also known as copper storage disease, hepatolenticular degeneration and inherited copper toxicity. Copper is an essential mineral present in our food. It is incorporated into enzymes that play a role in the regulation of iron metabolism, formation of connective tissue, energy production in cells, the production of the skin pigment melanin, and the function of the nerves and brain. Copper is absorbed in the intestines, bound to a carrier protein, transported to the liver, and then stored or used – with the excess removed into the bile and removed from the body in the stool with a little excreted in the urine. Normally 95% of the copper found in the blood is contained in caeruloplasmin, a protein involved with iron metabolism which is produced in the liver. 

 Wilson`s disease is an autosomal recessive disorder ie recessive disorder which means it takes that two altered gene copies, one from each parent, are needed to cause the disease. Those with only one defective copy are carriers and can pass the mutation on to their children but do not have symptoms of the disease themselves. The gene mutation in Wilson’s disease is in a gene called ATP7B. This gene is needed to attach copper to caeruloplasmin and to excrete copper into the bile. An alteration in both copies of the gene leads to excess copper storage in the liver and to a decrease in the caeruloplasmin level in the blood. As the copper levels increase, it begins to damage the liver, spills into the blood,and forms deposits in other organs such as the brain and kidneys. Free (unbound) copper concentrations in the blood increase and can cause damage other to cells. Affected patients may have signs and symptoms of liver disease, neurological damage, or both. The severity of the condition depends partly upon the gene mutations present but will also vary from person to person. About 1 in 30,000 people in the UK population have Wilson’s disease and as many as 1 in 90 are estimated to be carriers. There are currently over 260 known mutations of the ATP7B gene seen Wilson’s disease patients. Only a few of these mutations are common, and they varying in frequency throughout the world. Affected patients may have two copies of the same genetic mutation or two different mutations. Wilson’s disease patients with liver disease frequently have symptoms starting in early childhood, those with brain involvement may have neurological and psychiatric symptoms beginning in their teens or early twenties, but the age range for both can vary from about three years old to over fifty. Deposits of copper in the liver can lead to acute, chronic, and progressive hepatitis and cirrhosis and cause signs and symptoms such as

jaundice

tiredness

tummy pain

nausea

ascites (a build-up of fluid in the abdomen)


Patients with brain involvement may have a range of physical symptoms including

dystonia 

stiff face muscles

tremor

abnormal eye movements

altered gait (the way a person walks)

difficulty with walking, speaking, and swallowing


They may also experience behavioural changes such as depression, paranoia, impulsiveness, obsessive behaviour, aggression, and a shortened attention span.  About 50% of those with liver disease and 90% of those with brain involvement will have Kayser-Fleischer rings which are deposits of copper in a ring around the cornea. These can be seen with an eye test called a slit lamp examination.  Some patients may also have anaemia, easy bruising, joint pain and/or kidney dysfunction.

Left untreated, Wilson’s disease tends to become progressively worse and is eventually fatal.  With early detection and treatment most of those affected can live relatively normal lives.  Liver and neurological damage that occurs prior to treatment may improve but it is often permanent. 



                                        
                                        
    
        
            
                

                

                
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Sym:
Test
The goals of testing are to diagnose Wilson’s disease, evaluate its severity, distinguish between those who have the disease and those who are carriers, rule out other causes of liver and neurological disease and to monitor the effectiveness of treatment.  Testing is also used to identify family members who are pre-symptomatic or carriers and sometimes for prenatal evaluation.

Laboratory Tests
Care must be taken to avoid external copper contamination in sample collection.  Repeat testing of abnormal results may be recommended.  Test results of people who are carriers may overlap with those who have Wilson’s disease but are pre-symptomatic.  Other liver diseases may also result in excess copper storage and increased copper in the blood.  Acute cases of Wilson’s disease may be difficult to distinguish from other forms of liver disease.  Testing may include:

Caeruloplasmin– requested to help diagnose Wilson’s disease. Its level is usually decreased but about 5% of patients with Wilson’s disease who have neurological symptoms will have normal caeruloplasmin levels as will up to 40% of those with liver symptoms.

Total serum copper – may be requested to help diagnose. Its level is usually decreased in Wilson’s disease.

Free serum copper (non-caeruloplasmin-bound) – used to diagnose and monitor, usually increased in Wilson’s disease.

24-hour urine copper – used to diagnose and monitor, usually increased I Wilson’s disease.

Liver copper – a liver tissue biopsy collected to help diagnose.  Its level is usually increased in Wilson’s disease but deposits of copper may not be evenly distributed in the liver and so the test may occasionally be negative in patients with the disease.

Molecular genetic testing – This is specialised testing that is available from a limited number of reference or research laboratories.  It is used to diagnose Wilson’s disease and identify mutations and carriers.  Some prediction of disease severity can be established based upon the mutations present but testing cannot determine the severity, complications, or organ involvement that will be experienced by a specific individual.  The severity and course of the disease can vary significantly, even between family members with the same mutations. The ATP7B gene mutations most prevalent in a region or ethnic population may be found.  If the mutations have been identified in a patient with Wilson’s disease then the family members can be tested for these. Gene sequencing can be performed to examine the entire gene for mutations. This is the most thorough test. Linkage analysis can also be carried out. This requires blood from parents, siblings, and an affected family member. It compares genetic information which is present close to the ATP7B gene.


Other tests may be performed to evaluate organ function and blood cell status, including:

FBC (Full Blood Count)

Liver function tests (LFTs) 


Non-Laboratory Tests

Eye exam – slit lamp examination for Kayser-Fleischer rings in the cornea

MRI (magnetic resonance imaging) scan

CT (computerised tomography) scan




                                        
                                        
    
        
            
                
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Tests:
Treatment
There is no way to prevent or cure Wilson’s disease but it can be successfully managed.  Symptoms, complications and response to treatment will vary from person to person, even within families who have the same genetic mutations.

In patients with symptoms of  Wilson’s disease the goals of treatment are to decrease excess copper stores, prevent their recurrence, preserve liver, neurological, and kidney function, and to minimise complications associated with the condition and with the medications used to treat it.  

Patients who are asymptomatic but have been diagnosed as having Wilson’s disease, such as siblings of affected patients, will usually be treated to decrease any excess copper that is present and to prevent its build-up.  Those who are carriers of Wilson’s disease should receive genetic counselling but do not usually require any treatment.  

Affected patients are put on a low copper diet.  Most are treated first with one of two chelating agents, D-penicillamine or trientine (triethylene tetramine dihydochloride), to increase urinary excretion of copper and decrease copper stores.  Patients must be monitored for side effects as the medications can decrease red blood cell, white blood cell and platelet counts and can cause nausea, fever, and skin conditions.  Some patients must take these medications long term. Others can switch to zinc therapy once copper stores have normalised.  High doses of zinc inhibit the absorption of copper. Antioxidants such as vitamin E may be recommended to help prevent liver and other tissue damage.

Copper dietary restriction and treatment must be continued throughout the patient’s life.  Treatments may be changed but should never be discontinued.  In some severe cases liver transplantation may be necessary.



                                        
                                        
    
        
            
                
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info:
What are Wound and Skin Infections?
Wound and skin infections represent the invasion of tissues by one or more species of microorganisms.  This infection triggers the body’s immune system, causes inflammation and tissue damage, and slows the healing process.  Many infections remain confined to a small area, such as an infected scratch or hair follicle, and usually resolve on their own.  Other infections may persist and, if untreated, increase in severity and spread further and/or deeper into the body.  Some infections spread to other organs or cause septicaemia.

Skin is the body’s largest organ and its first line of defence.  Even when skin is clean, the surface of the skin is not sterile and is populated with a mixture of microorganisms called normal flora.  This normal flora forms a dynamic barrier that helps to keep other more harmful microorganisms (pathogens) at bay.  At any time, some of the general population will be carriers of a pathogen that can displace normal flora and “colonizes” locations like the mucous membranes of the nose.  Most of the time normal flora and colonizing pathogens do not cause illness and do not stimulate the immune system.  If there is a break in the skin or if the immune system becomes compromised, then any of the microorganisms present can cause a wound or skin infection.

Wounds are breaks in the integrity of the skin and tissues.  These breaks may be superficial cuts, scrapes or scratches but also include punctures, burns or may be the result of surgical or dental procedures. The microorganisms likely to infect them depend on the wound’s extent and depth, the environment in which the wound occurs, and the microorganisms present on the person’s skin.  The skin has three layers: the outer epidermis, the dermis – where many hair follicles and sweat glands are located, and the fatty subcutaneous layer.  Below these layers are membranes that protect connective tissues, muscle, and bone.  Wounds can penetrate any of these layers and skin infections can spread into them. Wound healing is a complex process that involves many related systems, chemicals, and cells working together to clean the wound, seal its edges, and to produce new tissues and blood vessels.

Skin and wound infections interfere with the healing process and can create additional tissue damage.  They can affect anyone, but those with slowed wound healing due to underlying conditions such as poor circulation or a suppressed immune system are at greater risk. When infections penetrate deep into the body into tissues such as bone, or when they occur in tissue that has inadequate circulation, they can become difficult to treat and may become chronic infections.



                                        
                                        
    
        
            
                

                

                
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Sym:
Types
Bacteria, fungi, and viruses can cause skin and wound infections.  Bacteria may be divided according to the environment in which they grow: those that grow in air (aerobic), those that grow in reduced oxygen environments (microaerophilic), and those that grow in little to no oxygen (anaerobic).  Microaerophilic and anaerobic bacteria may be found in deeper wounds and abscesses.

Superficial skin infections
Superficial infections occur primarily in the outer layers of the skin but may extend deeper into the subcutaneous layer.  They are primarily caused by aerobic microorganisms but deeper wounds may also be infected with anaerobes.

Bacterial infections are typically caused by normal flora bacteria, such as species of Staphylococcus (Staph) and Streptococcus (Strep).  They may also be caused by colonizing bacteria and antibiotic resistant bacteria, such as MRSA (Methicillin Resistant Staphylococcus aureus).  Brackish water wound infections may be due to waterborne Vibrio or Aeromonas species. Swimming pool-associated infections may be caused by Pseudomonas aeruginosa.  When wounds are deeper, the possible pathogens include anaerobes such as Bacteroides and Clostridium species.

Typical bacterial skin infections include:

Folliculitis, furuncles, and carbuncles

Impetigo—skin lesions and vesicles

Pressure sores (bed sores) and ulcers—these may be found in patients who have been immobilized for long periods of time such as long-term care facility patients.  These types of wounds may contain many different types of bacteria and culturing them does not provide useful information as to how the patient should be treated.

Cellulitis—an infection often involving the subcutaneous and connective tissue of skin causing redness, heat, and swelling

Necrotizing fasciitis—a serious but uncommon infection that can spread rapidly and destroy skin, fat, muscle tissue and fascia, the layer of tissue covering muscle groups.  This type of infection often involves Group A streptococci.


Other common skin infections such as ringworm and athlete’s foot are not caused by bacteria but by fungi.  Fungi can be found on thorns, splinters, and dead vegetation and can lead to deep wound infections that require special cultures for detection and identification. Yeast infections cause by Candida species may occur in the mouth (thrush) or on other moist areas of the skin.

A variety of warts, such as common and plantar warts, are due to human papilloma virus (HPV).

Bites
Wound infections due to bites tend to reflect the microorganisms present in the saliva and oral cavity of the human or animal that created the bite wound.  They may involve one or more aerobic, microaerophilic, and/or anaerobic microorganisms.

Human bites may become infected with a variety of aerobic and anaerobic bacteria that are part of the normal oral flora. The majority of animal bites are from dogs and cats, and the most common bacteria recovered from these cultures is Pasteurella multocida. Although rare, there is a risk of rabies viral infection with bites from unvaccinated animalsand should be considered if the bite occurs outside the U.K. (although even in the wild the prevalence of rabies is low).

Trauma
Trauma is a wide category of injuries caused by physical force.  It includes everything from burns to injuries from motor vehicle accidents, crushing injuries, cuts from knives and other sharp instruments, and gunshot wounds. The type of infections that trauma victims acquire depend primarily on the environment in which the injury took place, the extent of the injury, the microorganisms present on the skin of the affected person, the microorganisms the person is exposed to during wound healing, and the person’s general health and immune status.

Wounds that are initially contaminated such as with the dirt that may be acquired during a motor vehicle accident or that involve extensive damaged tissue – such as a severe burn—are at an increased risk of becoming infected.  It is not uncommon for deep and contaminated wounds to have more than one aerobic and/or anaerobic microorganism present.

A deep puncture wound could allow anaerobic bacteria such as Clostridium tetani (the cause of tetanus) to grow.  Because most people in the U.K. are immunized against tetanus, anaerobic bacteria infection is a very rare event.  Vaccination must be updated for tetanus every 10 years. Re-vaccination is often done in the emergency room where patients are treated after incurring a deep wound that may need stitches.

Post surgical
Surgical sites are most commonly infected with the patient’s normal skin and/or gastrointestinal flora – the same organisms seen with superficial infections.  They may also become infected by exposure to microorganisms in the hospital environment.  Healthcare-associated bacteria, such as MRSA, often have an increased resistance to antibiotics.  Deep surgical wounds may become infected both superficially with aerobic microorganisms and deep within the body by anaerobes.

Burns
Burns may be caused by scalding or flammable liquids, fires and other sources of heat, chemicals, sunlight, electricity, and very rarely by nuclear radiation.  First-degree burns involve the epidermis.  Second-degree burns penetrate to the dermis.  Third-degree burns penetrate through all of the layers of the skin and frequently damage the tissues below it.

Burn wounds are initially sterile but because of the dead tissue at their centre – the eschar (scab) – and the loss of the skin’s protection, they are quickly colonized by the patient’s normal flora.  The affected person is at an increased risk for wound infection, septicaemia, and for multiple organ failure.  Initial infections tend to be bacterial.  Fungal infections due to Candida, Aspergillus, Fusarium, and other species may arise later since they are not inhibited by antibacterial treatment.  Viral infections, such as those caused by the herpes simplex virus, may also occur.



                                        
                                        
    
        
            
                
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Tests:
Signs and symptoms
General signs and symptoms of a wound infection include redness, swelling, warmth, tenderness, and pus drainage.  The skin may also harden or tighten in the area and red streaks may radiate from the wound.  Wound infections may also cause fevers, especially when they spread to the blood.  Skin infections often redden or discolour the skin and may cause pustules, scaling, pain, and/or itching.



                                        
                                        
    
        
            
                
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# Paste Errors

Test Name:
Phil Chromosome or BCR-ABL by PCR ( Quantitative)


Test Name:
PRA (Panel Reactive Antibody) by Serology or PCR


Test Name:
Pregnancy Test, Serum  (sens.= 20mIU/ml)


Test Name:
Prostate Work-up, (urine cell counts pre-&post-prostatic issuate, direct smear, gram stain, C&S)


Test Name:
Prostatic-Specific Antigen (PSA), Free, Serum


Test Name:
Prostatic-Specific Antigen (PSA), Total, Serum


Test Name:
Prothrombin G20210A Mutation, PCR, Blood


Test Name:
Rheumatiod Factor (RF) IgG Isotype, Serum


Test Name:
Rheumatoid Factor (RF) IgA Isotype, Serum


Test Name:
Rheumatoid Factor (RF) IgM Isotype, Serum


Test Name:
Rheumatoid Factor (RF) Turbidimetry, Serum


Test Name:
RSV (Respiratory Syncytial Virus) Abs, IgG


Test Name:
RSV (Respiratory Syncytial Virus) Abs, IgM


Test Name:
Saccharomyces Cerevisiae Antibodies, IgA, Serum


Test Name:
Saccharomyces Cerevisiae Antibodies, IgG, Serum


Test Name:
SCREEN AND LEVEL ANTIEPILEPTIC-SERUM  By GC-MS


Test Name:
SCREEN AND LEVEL BENZODIAZEPINES - SERUM by GC_MS


Test Name:
SCREEN AND LEVEL OF TRICYCLIC ANTIDEPRESSENT By GC-MS


Test Name:
Seminal Fluid Analysis:Routine(physical, sperm density, motility, morphology, cell counts)


Test Name:
Soluble Transferrin Receptor (sTfR), Serum


Test Name:
SPECIAL STAINS ON TISSUE Grimelius, silver stain for fungus


Test Name:
SPECIAL STAINS ON TISSUE Methyl green pyronin


Test Name:
SPECIAL STAINS ON TISSUE Orcein for copper


Test Name:
SPECIAL STAINS ON TISSUE Orcein for Hepatitis B Antigen


Test Name:
SPECIAL STAINS ON TISSUE Perls stain for hemosiderin


Test Name:
SPECIAL STAINS ON TISSUE Tartare resistant acid phosphatase


Test Name:
SPECIAL STAINS ON TISSUE Trichrome stain


Test Name:
Thrombophilia Genetic Panel (APCR, MTHFR & Prothrombin Mutations), PCR


Test Name:
Tissue Transglutaminase Ab, IgA, Serum :


Test Name:
Tissue Transglutaminase Ab, IgG, Serum :


Test Name:
Total Iron Binding Capacity (TIBC), Serum


Test Name:
Toxocara canis Antibody Structure, Serum


Test Name:
Treponema pallidum Hemagglutination (TPHA), Serum


Test Name:
Treponema pallidum IgG & IgM, Antibodies, Serum


Test Name:
Trichomonas vaginalis, Yeast & Fungi, Wet Mount


Test Name:
Tumor Marker ABL-BCR Quantitative by PCR


Test Name:
Tumor Marker Translocation Qualitative by PCR: InV.(16)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (1, 19)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (12, 21)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (15, 17)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (18, 14)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (4, 11)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (8, 18)


Test Name:
Urethral Discharge: (swabbing, gram stain, wet mount)


Test Name:
Very Low Density Lipoprotein (VLDL), Serum


Test Name:
Vitamin B6 ( Pyridoxal Phosphate ) Serum:


Test Name:
VOLATILES SOLVENTS( SERUM) BY GAS CHROMATOGRAPHY


Test Name:
Von Willebrand (Factor VIII Related Ag), Plasma


Test Name:
Wash / Lavage, routine cytology for malignant cells


# Table1

Test Name:
Activated Protein C Resistance (APCRV), Plasma


Test Name:
AFP (Alpha Fetoprotein) in amniotic fluid


Test Name:
ALCOHOL FOR DRIVERS by Gas Chromatography


Test Name:
Angiotensin Converting Enzyme (ACE), Serum


Test Name:
Anti b- Lactoglobulin (Cow milk and Soya) IgG


Test Name:
Anti Thyroid Microsomal Antibodies, Serum


Test Name:
Anti Thyroid Peroxidase (TPO) Antibodies, Serum


Test Name:
Anti-Acetylcholine Receptor Abs (IF) Qualitative


Test Name:
Anti-Acetylcholine Receptor Abs (IF) Quantitative


Test Name:
Anti-MAG (Myelin associated glycoprotein) Abs


Test Name:
b- Globin Gene Mutations (22), PCR, Amniotic Fluid


Test Name:
b- Globin Gene Mutations (22), PCR, Blood


Test Name:
b2- Glycoprotein 1 (B2GP-1) IgG & IgM Antibodies


Test Name:
b- Globin Gene Mutations (b Thalassemia), Amniotic


Test Name:
b- Globin Gene Mutations (b Thalassemia), Blood


Test Name:
Beta-Thalassemia  Sequencing - Targeted known mutation


Test Name:
Beta-Thalassemia  Sequencing - Whole Coding Region


Test Name:
Beta-Thalassemia, Carrier Testing known mutation


Test Name:
Beta-Thalassemia, PGD (Pre-implantation genetic diag)–unknown mutation


Test Name:
Beta-Thalassemia, Prenatal Analysis - Sequencing entire coding region


Test Name:
Beta-Thalassemia, Prenatal Analysis - unknown mutation


Test Name:
Bilirubin, amniotic fluid spectral curve


Test Name:
Body Fluid Analysis, Cell Count & Biochemical


Test Name:
Borrelia burgdorferi Antibodies, IgG, Serum


Test Name:
Borrelia burgdorferi Antibodies, IgM, Serum


Test Name:
BRCA1 Prenatal Analysis - known mutation


Test Name:
BRCA1 Prenatal analysis - unknown mutation


Test Name:
CARBON MONOXIDE by Hs-Gas Chromatography


Test Name:
Cardiovasular Disease, 12 Mutation Profile, PCR


Test Name:
Catecholamines, Total and Free (urine, plasma)


Test Name:
CATECHOLAMINES, FRACTIONATION, ( HPLC )-Plasma


Test Name:
Cerebrospinal Fluid Bacterial Latex Test


Test Name:
CFTR (Cystic Fibrosis Gene) Carrier Testing known mutation


Test Name:
CFTR PGD (Pre-implantation Genetic Diagnosis) - known mutation


Test Name:
CFTR PGD (Pre-implantation Genetic Diagnosis) - unknown mutation


Test Name:
CFTR Prenatal Analysis - unknown mutation


Test Name:
Chlamydia trachomatis Antibodies IgA, Serum


Test Name:
Chlamydia trachomatis Antibodies IgM, Serum


Test Name:
Chlamydia trachomatis Antibodies, IgG, Serum


Test Name:
CHOLINESTERASE ACTIVITY in RBc And Plasma


Test Name:
Chromosomal Karyotyping, Fragile X Syndrome


Test Name:
CONFERMATION TEST FOR MAPLE SYRUP -URINE By GCMS


Test Name:
Coproporphyrins & Uroporphyrins chemical method


Test Name:
Coxiella burnetii Antibodies, IgG, Serum


Test Name:
Coxiella burnetii Antibodies, IgM, Serum


Test Name:
Coxsackie (A7, 9, 16 & 24) Antibodies, IgG, Serum


Test Name:
Coxsackie (A7, 9, 16 & 24) Antibodies, IgM, Serum


Test Name:
Coxsackie Virus B1-6 Antibodies, IgG, Serum


Test Name:
Coxsackie Virus B1-6 Antibodies, IgM, Serum


Test Name:
Creatine Kinase Isoenzymes, Electrophoresis, Serum


Test Name:
Cystinuria Carrier Testing  known mutation


Test Name:
Cystinuria PGD (Pre-Implantation Genetic Diagnosis) - known mutation


Test Name:
Cystinuria PGD (Pre-Implantation Genetic Diagnosis)- unknown mutation


Test Name:
Cystinuria Prenatal Analysis - known mutation


Test Name:
Cystinuria Prenatal Analysis - unknown mutation


Test Name:
Cystinuria Sequencing - Targeted known exons


Test Name:
Cystinuria Sequencing - Whole Coding Region


Test Name:
DMD (Duchenne Muscular Dystrophy)/Becker Deletion


Test Name:
ENA (Extractable Nuclear Antigens) Titer


Test Name:
ENA (Extractable Nuclear Antigens ), Abs Per Antigen


Test Name:
Factor II Carrier Testing known mutation


Test Name:
FISH for Chromosome 13: Prenatal or Postnatal


Test Name:
FISH for Chromosome 18: Prenatal or Postnatal


Test Name:
FISH for Chromosome 21: Prenatal or Postnatal


Test Name:
FISH for Chromosomes 21, 13 & 18: Prenatal or Postnatal


Test Name:
FISH for Chromosomes X & Y Prenatal or Postnatal


Test Name:
FISH for Chromosomes: 21, 13, X & Y Prenatal or Postnatal


Test Name:
FISH for X Chromosome: Prenatal or Postnatal


Test Name:
FISH for Y Chromosome: Prenatal or Postnatal


Test Name:
FISH on CVS (Chorionic Villus Sampling) for Down syndrome


Test Name:
FISH: Prenatal or Postnatal Chromosomal Abnormality, 2 probes


Test Name:
FISH: Prenatal or Postnatal Chromosomal Abnormality, 3 probes


Test Name:
FISH: Prenatal or Postnatal Chromosomal Abnormality, 4 probes


Test Name:
FISH: Prenatal or Postnatal Chromosomal Abnormality, 5 probes


Test Name:
FISH: Prenatal or Postnatal Chromosomal Abnormality, one probe


Test Name:
FMF PGD (Pre Implantation Genetic Diagnosis) known mutation


Test Name:
Glomerular Basement Membrane Antibodies, Serum


Test Name:
Glutamic Acid Decarboxylase (GAD65) Abs, Serum


Test Name:
GTT (Glucose tolerance test) per serum glucose sample


Test Name:
Haemoglobin Varients, HPLC &  Electrophoresis, Blood


Test Name:
Heparin (Anti Factor Xa Activitiy), Plasma:


Test Name:
Heparin induced thrombocytopenia (Factor IV)


Test Name:
Hepatitis C Virus (HCV) Serotyping, Strains 1-6


Test Name:
Hepatitis E Virus (HEV) Antibodies, IgM, Serum


Test Name:
Herpes Simplex Virus I & II (HSV I & II) DNA, PCR


Test Name:
HLA-ABC Class I by Serology, Immunobeads or PCR method


Test Name:
HLA-DR Class II by Serology, Immunobeads or PCR method


Test Name:
HOMOCYSTEINE, CYSTEINE, METHIONIONE AND AROMATIC ACIDS PROFILE By GCMS


Test Name:
HPLC for Floxetene or Fluoxamine (Prozac)


Test Name:
HPLC for Individual Amino Acids, each (Arginine, Aspartate, Cystine, Leucine, Isoleucine, Valine, Histidine, Glutamine, Glycine, Lysine, Thrionine, Methionine, Ornithine)


Test Name:
HPLC for Organic acids (Gas Chromatography Mass Spectrometry)


Test Name:
HPLC: Adrenaline, Noradrenaline and L-DOPA


Test Name:
HPLC: Aminoacid Profile, plasma or urine


Test Name:
Human Immunodeficiency Virus 1&2 Ag/ Ab's Serum


Test Name:
Human papilloma Virus Subtypes: 6, 11, 40, 16, 18, 31, 45, 56, 52


Test Name:
Human Papillomavirus (HPV) Genotyping, PCR


Test Name:
Hyperoxaluria Carrier Testing known mutation


Test Name:
Hyperoxaluria PGD (Pre-implantation genetic diagnosis) - known mutation


Test Name:
Hyperoxaluria PGD (Pre-implantation genetic diagnosis) - unknown mutation


Test Name:
Hyperoxaluria Prenatal Analysis - known mutation


Test Name:
Hyperoxaluria Prenatal Analysis - unknown mutation


Test Name:
Hyperoxaluria Sequencing - Targeted known mutation


Test Name:
Hyperoxaluria Sequencing - Whole Coding Region


Test Name:
IGF-1 (Insulin-like growth factor-1), serum


Test Name:
Immunoglobulin G Subclass II (IgG2), Serum


Test Name:
Immunophenotyping / Marker, Flow Cytometry


Test Name:
Influenza Virus Strain A Antibodies, IgG, Serum


Test Name:
Influenza Virus Strain A Antibodies, IgM, Serum


Test Name:
Influenza Virus Strain B Antibodies, IgG, Serum


Test Name:
Influenza Virus Strain B Antibodies, IgM, Serum


Test Name:
Lactate Dehydrogenase (LDH) Isoenzymes, Serum


Test Name:
Legionella pneumophilia Antibodies, IgM, Serum


Test Name:
Leukocyte Alkaline Phosphatase (LAP) Score


Test Name:
Lupus Anticoagulant (Two Methods), Plasma


Test Name:
Lymphocyte Toxicity test by serology or PCR


Test Name:
Natural Killer Cell (CD16 + CD56), Flow Cytometry


Test Name:
Neonatal Screen (TSH, T4, PKU, Galactose, G6PD)


Test Name:
Neuronal Nuclear Ab (ANNA), IgG, Serum-Hu,Yo & Ri


Test Name:
Neuronal Nuclear Ab (ANNA), IgM, Serum-Hu,Yo & Ri


Test Name:
Nitroblue Tetrazolium, Neutrophil Function Test


Test Name:
Osteogenesis Imperfecta COL1A1/A2 Gene Analysis Per Exon


Test Name:
P53 PGD (Pre Implantation Genetic Diagnosis) - known mutation


Test Name:
P53 PGD (Pre Implantation Genetic Diagnosis) - unknown mutation


Test Name:
P53 Prenatal Analysis - unknown mutation


Test Name:
Pancreatic Langerhans Islet Cell Antibodies, Serum


Test Name:
Parainfluenza Virus Type 1 Ab's, IgG, Serum


Test Name:
Parainfluenza Virus Type 1 Ab's, IgM, Serum


Test Name:
Parainfluenza Virus Type 2 Ab's, IgG, Serum


Test Name:
Parainfluenza Virus Type 2 Ab's, IgM, Serum


Test Name:
Parainfluenza Virus Type 3 Ab's, IgM, Serum


Test Name:
Parainfluenza Virus Type3 Ab's, IgG, Serum


Test Name:
PRA (Panel Reactive Antibody) by Serology or PCR


Test Name:
Pregnancy Test, Serum  (sens.= 20mIU/ml)


Test Name:
Prostate Work-up, (urine cell counts pre-&post-prostatic issuate, direct smear, gram stain, C&S)


Test Name:
Prostatic-Specific Antigen (PSA), Free, Serum


Test Name:
Prostatic-Specific Antigen (PSA), Total, Serum


Test Name:
Prothrombin G20210A Mutation, PCR, Blood


Test Name:
Rheumatiod Factor (RF) IgG Isotype, Serum


Test Name:
Rheumatoid Factor (RF) IgA Isotype, Serum


Test Name:
Rheumatoid Factor (RF) IgM Isotype, Serum


Test Name:
Rheumatoid Factor (RF) Turbidimetry, Serum


Test Name:
RSV (Respiratory Syncytial Virus) Abs, IgG


Test Name:
RSV (Respiratory Syncytial Virus) Abs, IgM


Test Name:
Saccharomyces Cerevisiae Antibodies, IgA, Serum


Test Name:
Saccharomyces Cerevisiae Antibodies, IgG, Serum


Test Name:
SCREEN AND LEVEL ANTIEPILEPTIC-SERUM  By GC-MS


Test Name:
SCREEN AND LEVEL BENZODIAZEPINES - SERUM by GC_MS


Test Name:
SCREEN AND LEVEL OF TRICYCLIC ANTIDEPRESSENT By GC-MS


Test Name:
Seminal Fluid Analysis:Routine(physical, sperm density, motility, morphology, cell counts)


Test Name:
Soluble Transferrin Receptor (sTfR), Serum


Test Name:
Thrombophilia Genetic Panel (APCR, MTHFR & Prothrombin Mutations), PCR


Test Name:
Tissue Transglutaminase Ab, IgA, Serum :


Test Name:
Tissue Transglutaminase Ab, IgG, Serum :


Test Name:
Total Iron Binding Capacity (TIBC), Serum


Test Name:
Toxocara canis Antibody Structure, Serum


Test Name:
Treponema pallidum Hemagglutination (TPHA), Serum


Test Name:
Treponema pallidum IgG & IgM, Antibodies, Serum


Test Name:
Trichomonas vaginalis, Yeast & Fungi, Wet Mount


Test Name:
Tumor Marker ABL-BCR Quantitative by PCR


Test Name:
Tumor Marker Translocation Qualitative by PCR: InV.(16)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (1, 19)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (12, 21)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (15, 17)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (18, 14)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (4, 11)


Test Name:
Tumor Marker Translocation Qualitative by PCR: t (8, 18)


Test Name:
Urethral Discharge: (swabbing, gram stain, wet mount)


Test Name:
Very Low Density Lipoprotein (VLDL), Serum


Test Name:
Vitamin B6 ( Pyridoxal Phosphate ) Serum:


Test Name:
VOLATILES SOLVENTS( SERUM) BY GAS CHROMATOGRAPHY


Test Name:
Von Willebrand (Factor VIII Related Ag), Plasma


Test Name:
Hysterectomy (uterus) with tubes & ovaries non-neoplastic


Test Name:
Hysterectomy (uterus) with tubes & ovaries neoplastic


Test Name:
Body fluid/secretionn, routine cytology for malignant cells


Test Name:
Wash / Lavage, routine cytology for malignant cells


Test Name:
Fine needle aspiration, deep mass, routine


Test Name:
Fine needle aspiration, superficial mass, routine


Test Name:
Fine needle aspiration, testicular, under LA / GA


Test Name:
Bone marrow aspiration, including iron stain


Test Name:
Bone marrow needle core biopsy, including reticulin stain


Test Name:
FLOW CYTOMETRY  ALL Panel (up to 10 markers)


Test Name:
FLOW CYTOMETRY  Immunodeficiency Panel CD4, CD8, CD4/8 ratio, CD19,CD5,CD16


Test Name:
FLOW CYTOMETRY  Solid phase panel (up to 10 markers)


Test Name:
Immunohistochemistry solid phase for each antibody


Test Name:
SPECIAL STAINS ON TISSUE Grimelius, silver stain for fungus


Test Name:
SPECIAL STAINS ON TISSUE Methyl green pyronin


Test Name:
SPECIAL STAINS ON TISSUE Orcein for copper


Test Name:
SPECIAL STAINS ON TISSUE Orcein for Hepatitis B Antigen


Test Name:
SPECIAL STAINS ON TISSUE Perls stain for hemosiderin


Test Name:
SPECIAL STAINS ON TISSUE Tartare resistant acid phosphatase


Test Name:
SPECIAL STAINS ON TISSUE Trichrome stain


Test Name:
FROZEN SECTION For first frozen sections block


Test Name:
FROZEN SECTION For subsequent blocks  additional


Test Name:
CONSULTATION Pathology consultation, second opinion (without markers)


Test Name:
CONSULTATION Telepathology consultation (without markers)


Test Name:
CONSULTATION Bone marrow aspiration &  biopsy


Test Name:
CONSULTATION Fine needle aspiration, deep mass, routine


Test Name:
CONSULTATION Fine needle aspiration, superficial mass, routine


Test Name:
CONSULTATION Fine needle aspiration, testicular, under LA / GA


Test Name:
Interval between ejaculation and startof analysis (min)


Test Name:
Phil Chromosome or BCR-ABL by PCR ( Quantitative)


Test Name:
N-terminal pro-B-type natriuretic peptide (NT-proBNP)


# Table2

new:
Activated Protein C Resistance (APCRV), Plasma


new:
AFP (Alpha Fetoprotein) in amniotic fluid


new:
ALCOHOL FOR DRIVERS by Gas Chromatography


new:
Angiotensin Converting Enzyme (ACE), Serum


new:
Anti b- Lactoglobulin (Cow milk and Soya) IgG


new:
Anti Thyroid Microsomal Antibodies, Serum


new:
Anti Thyroid Peroxidase (TPO) Antibodies, Serum


new:
Anti-Acetylcholine Receptor Abs (IF) Qualitative


new:
Anti-Acetylcholine Receptor Abs (IF) Quantitative


old:
Aminophylline, Nuelin, Phyllocontin, Slo-Phyllin, Uniphyllin


new:
Anti-MAG (Myelin associated glycoprotein) Abs


old:
Antimitochondrial Antibody and Antimitochondrial M2 Antibody


new:
b- Globin Gene Mutations (22), PCR, Amniotic Fluid


old:
B-cell Gene Clonality Molecular Genetic Tests

new:
b- Globin Gene Mutations (22), PCR, Blood


new:
b- Globin Gene Mutations (b Thalassemia), Amniotic


new:
b- Globin Gene Mutations (b Thalassemia), Blood


new:
b2- Glycoprotein 1 (B2GP-1) IgG & IgM Antibodies


new:
Beta-Thalassemia  Sequencing - Targeted known mutation


new:
Beta-Thalassemia  Sequencing - Whole Coding Region


new:
Beta-Thalassemia, Carrier Testing known mutation


new:
Beta-Thalassemia, PGD (Pre-implantation genetic diag)–unknown mutation


new:
Beta-Thalassemia, Prenatal Analysis - Sequencing entire coding region


new:
Beta-Thalassemia, Prenatal Analysis - unknown mutation


new:
Bilirubin, amniotic fluid spectral curve


new:
Body Fluid Analysis, Cell Count & Biochemical


new:
Body fluid/secretionn, routine cytology for malignant cells


new:
Bone marrow aspiration, including iron stain


new:
Bone marrow needle core biopsy, including reticulin stain


new:
Borrelia burgdorferi Antibodies, IgG, Serum


new:
Borrelia burgdorferi Antibodies, IgM, Serum


old:
Bordetella pertussis Antibodies, IgA, IgG, IgM


new:
BRCA1 Prenatal Analysis - known mutation


new:
BRCA1 Prenatal analysis - unknown mutation


old:
Borrelia burgdorferi IgM and IgG antibodies


old:
Brain natriuretic peptide, NT-proBNP, N terminal pro B type natriuretic peptide, natriuretic peptides


old:
Breast Cancer Gene 1 and Breast Cancer Gene 2


old:
Breast Cancer Susceptibility Genes 1 and 2


new:
CARBON MONOXIDE by Hs-Gas Chromatography


new:
Cardiovasular Disease, 12 Mutation Profile, PCR


old:
Cardiolipin Antibodies, IgG, IgM, and IgA


new:
CATECHOLAMINES, FRACTIONATION, ( HPLC )-Plasma


new:
Catecholamines, Total and Free (urine, plasma)


new:
Cerebrospinal Fluid Bacterial Latex Test


new:
CFTR (Cystic Fibrosis Gene) Carrier Testing known mutation


new:
CFTR PGD (Pre-implantation Genetic Diagnosis) - known mutation


new:
CFTR PGD (Pre-implantation Genetic Diagnosis) - unknown mutation


new:
CFTR Prenatal Analysis - unknown mutation


new:
Chlamydia trachomatis Antibodies IgA, Serum


new:
Chlamydia trachomatis Antibodies IgM, Serum


new:
Chlamydia trachomatis Antibodies, IgG, Serum


new:
CHOLINESTERASE ACTIVITY in RBc And Plasma


new:
Chromosomal Karyotyping, Fragile X Syndrome


new:
CONFERMATION TEST FOR MAPLE SYRUP -URINE By GCMS


new:
CONSULTATION Bone marrow aspiration &  biopsy


new:
CONSULTATION Fine needle aspiration, deep mass, routine


new:
CONSULTATION Fine needle aspiration, superficial mass, routine


new:
CONSULTATION Fine needle aspiration, testicular, under LA / GA


new:
CONSULTATION Pathology consultation, second opinion (without markers)


new:
CONSULTATION Telepathology consultation (without markers)


new:
Coproporphyrins & Uroporphyrins chemical method


new:
Coxiella burnetii Antibodies, IgG, Serum


new:
Coxiella burnetii Antibodies, IgM, Serum


new:
Coxsackie (A7, 9, 16 & 24) Antibodies, IgG, Serum


new:
Coxsackie (A7, 9, 16 & 24) Antibodies, IgM, Serum


new:
Coxsackie Virus B1-6 Antibodies, IgG, Serum


new:
Coxsackie Virus B1-6 Antibodies, IgM, Serum


new:
Creatine Kinase Isoenzymes, Electrophoresis, Serum


new:
Cystinuria Carrier Testing  known mutation


new:
Cystinuria PGD (Pre-Implantation Genetic Diagnosis) - known mutation


new:
Cystinuria PGD (Pre-Implantation Genetic Diagnosis)- unknown mutation


new:
Cystinuria Prenatal Analysis - known mutation


new:
Cystinuria Prenatal Analysis - unknown mutation


new:
Cystinuria Sequencing - Targeted known exons


new:
Cystinuria Sequencing - Whole Coding Region


old:
Epilim, Depakote, sodium valproate, semisodium valproate


old:
Epstein-Barr Virus Antibody to Early D Antigen, IgG


old:
Epstein-Barr Virus Antibody to Nuclear Antigen, IgG


old:
Epstein-Barr Virus Antibody to Viral Capsid Antigen, IgG


old:
Epstein-Barr Virus Antibody to Viral Capsid Antigen, IgM


new:
DMD (Duchenne Muscular Dystrophy)/Becker Deletion


old:
Factor V Leiden Mutation andPT 20210 Mutation


old:
Factor V Leiden mutation: Activated protein C resistance


old:
Faecal Occult Blood Test and Faecal Immunochemical Test


new:
ENA (Extractable Nuclear Antigens ), Abs Per Antigen


new:
ENA (Extractable Nuclear Antigens) Titer


old:
First Trimester Screen Down’s Syndrome Screen


old:
Fluorescent antinuclear antibody , ANA ELISA


new:
Factor II Carrier Testing known mutation


new:
Fine needle aspiration, deep mass, routine


new:
Fine needle aspiration, superficial mass, routine


new:
Fine needle aspiration, testicular, under LA / GA


new:
FISH for Chromosome 13: Prenatal or Postnatal


new:
FISH for Chromosome 18: Prenatal or Postnatal


new:
FISH for Chromosome 21: Prenatal or Postnatal


new:
FISH for Chromosomes 21, 13 & 18: Prenatal or Postnatal


new:
FISH for Chromosomes X & Y Prenatal or Postnatal


new:
FISH for Chromosomes: 21, 13, X & Y Prenatal or Postnatal


new:
FISH for X Chromosome: Prenatal or Postnatal


new:
FISH for Y Chromosome: Prenatal or Postnatal


new:
FISH on CVS (Chorionic Villus Sampling) for Down syndrome


new:
FISH: Prenatal or Postnatal Chromosomal Abnormality, 2 probes


new:
FISH: Prenatal or Postnatal Chromosomal Abnormality, 3 probes


new:
FISH: Prenatal or Postnatal Chromosomal Abnormality, 4 probes


new:
FISH: Prenatal or Postnatal Chromosomal Abnormality, 5 probes


new:
FISH: Prenatal or Postnatal Chromosomal Abnormality, one probe


new:
FLOW CYTOMETRY  ALL Panel (up to 10 markers)


new:
FLOW CYTOMETRY  Immunodeficiency Panel CD4, CD8, CD4/8 ratio, CD19,CD5,CD16


new:
FLOW CYTOMETRY  Solid phase panel (up to 10 markers)


new:
FMF PGD (Pre Implantation Genetic Diagnosis) known mutation


old:
HCV, Hepatitis C antibody, Anti-HCV, Hepatitis C viral load, HCV-RNA


new:
FROZEN SECTION For first frozen sections block


new:
FROZEN SECTION For subsequent blocks  additional


new:
Glomerular Basement Membrane Antibodies, Serum


new:
Glutamic Acid Decarboxylase (GAD65) Abs, Serum


old:
High-sensitivity cardiac-specific Troponins I and T


new:
GTT (Glucose tolerance test) per serum glucose sample


new:
Haemoglobin Varients, HPLC &  Electrophoresis, Blood


old:
Human epidermal growth factor receptor-2


old:
Human immunodeficiency virus antibody test


old:
Immunophenotyping by Flow Cytometry or Immunohistochemistry


new:
Heparin (Anti Factor Xa Activitiy), Plasma:


new:
Heparin induced thrombocytopenia (Factor IV)


new:
Hepatitis C Virus (HCV) Serotyping, Strains 1-6


new:
Hepatitis E Virus (HEV) Antibodies, IgM, Serum


new:
Herpes Simplex Virus I & II (HSV I & II) DNA, PCR


new:
HLA-ABC Class I by Serology, Immunobeads or PCR method


new:
HLA-DR Class II by Serology, Immunobeads or PCR method


new:
HOMOCYSTEINE, CYSTEINE, METHIONIONE AND AROMATIC ACIDS PROFILE By GCMS


old:
LFTs, Liver panel, Hepatic function tests


new:
HPLC for Floxetene or Fluoxamine (Prozac)


new:
HPLC for Individual Amino Acids, each (Arginine, Aspartate, Cystine, Leucine, Isoleucine, Valine, Histidine, Glutamine, Glycine, Lysine, Thrionine, Methionine, Ornithine)


new:
HPLC for Organic acids (Gas Chromatography Mass Spectrometry)


new:
HPLC: Adrenaline, Noradrenaline and L-DOPA


new:
HPLC: Aminoacid Profile, plasma or urine


new:
Human Immunodeficiency Virus 1&2 Ag/ Ab's Serum


new:
Human papilloma Virus Subtypes: 6, 11, 40, 16, 18, 31, 45, 56, 52


new:
Human Papillomavirus (HPV) Genotyping, PCR


new:
Hyperoxaluria Carrier Testing known mutation


new:
Hyperoxaluria PGD (Pre-implantation genetic diagnosis) - known mutation


new:
Hyperoxaluria PGD (Pre-implantation genetic diagnosis) - unknown mutation


new:
Hyperoxaluria Prenatal Analysis - known mutation


new:
Hyperoxaluria Prenatal Analysis - unknown mutation


new:
Hyperoxaluria Sequencing - Targeted known mutation


old:
Meticillin Resistant Staphylococcus Aureus screening

new:
Hyperoxaluria Sequencing - Whole Coding Region


new:
Hysterectomy (uterus) with tubes & ovaries neoplastic


new:
Hysterectomy (uterus) with tubes & ovaries non-neoplastic


new:
IGF-1 (Insulin-like growth factor-1), serum


new:
Immunoglobulin G Subclass II (IgG2), Serum


new:
Immunohistochemistry solid phase for each antibody


new:
Immunophenotyping / Marker, Flow Cytometry


new:
Influenza Virus Strain A Antibodies, IgG, Serum


new:
Influenza Virus Strain A Antibodies, IgM, Serum


new:
Influenza Virus Strain B Antibodies, IgG, Serum


new:
Influenza Virus Strain B Antibodies, IgM, Serum


old:
Mycoplasma pneumoniae IgG and IgM antibodies


new:
Interval between ejaculation and startof analysis (min)


old:
Oestrogen and Progesterone receptor status


old:
Often referred to by brand name Rapamune


old:
or by the individual factor number or name


new:
Lactate Dehydrogenase (LDH) Isoenzymes, Serum


old:
Peripheral blood smear, manual differential, red blood cell morphology


new:
Legionella pneumophilia Antibodies, IgM, Serum


new:
Leukocyte Alkaline Phosphatase (LAP) Score


old:
Potassium hydroxide preparation, Fungal culture, Fungal antigen and antibody tests, and Calcofluor white stain


new:
Lupus Anticoagulant (Two Methods), Plasma


new:
Lymphocyte Toxicity test by serology or PCR


old:
Salicylates, aspirin, acetylsalicylic acid, methyl salicylate


new:
Natural Killer Cell (CD16 + CD56), Flow Cytometry


new:
Neonatal Screen (TSH, T4, PKU, Galactose, G6PD)


old:
Serum Cortisol, Urine Cortisol, Urinary Free Cortisol, Salivary Cortisol

new:
Neuronal Nuclear Ab (ANNA), IgG, Serum-Hu,Yo & Ri


new:
Neuronal Nuclear Ab (ANNA), IgM, Serum-Hu,Yo & Ri


old:
Serum Protein Electrophoresis , Urine Protein Electrophoresis , IFE

new:
Nitroblue Tetrazolium, Neutrophil Function Test


old:
Serum protein electrophoresis and urine protein electrophoresis


new:
N-terminal pro-B-type natriuretic peptide (NT-proBNP)


new:
Osteogenesis Imperfecta COL1A1/A2 Gene Analysis Per Exon


new:
P53 PGD (Pre Implantation Genetic Diagnosis) - known mutation


new:
P53 PGD (Pre Implantation Genetic Diagnosis) - unknown mutation


new:
P53 Prenatal Analysis - unknown mutation


new:
Pancreatic Langerhans Islet Cell Antibodies, Serum


new:
Parainfluenza Virus Type 1 Ab's, IgG, Serum


new:
Parainfluenza Virus Type 1 Ab's, IgM, Serum


new:
Parainfluenza Virus Type 2 Ab's, IgG, Serum


new:
Parainfluenza Virus Type 2 Ab's, IgM, Serum


new:
Parainfluenza Virus Type 3 Ab's, IgM, Serum


new:
Parainfluenza Virus Type3 Ab's, IgG, Serum


new:
Phil Chromosome or BCR-ABL by PCR ( Quantitative)


new:
PRA (Panel Reactive Antibody) by Serology or PCR


new:
Pregnancy Test, Serum  (sens.= 20mIU/ml)


old:
Thyroid stimulating hormone receptor antibody

new:
Prostate Work-up, (urine cell counts pre-&post-prostatic issuate, direct smear, gram stain, C&S)


new:
Prostatic-Specific Antigen (PSA), Free, Serum


new:
Prostatic-Specific Antigen (PSA), Total, Serum


old:
Total bilirubin, conjugated or direct bilirubin, unconjugated or indirect bilirubin


new:
Prothrombin G20210A Mutation, PCR, Blood


new:
Rheumatiod Factor (RF) IgG Isotype, Serum


new:
Rheumatoid Factor (RF) IgA Isotype, Serum


new:
Rheumatoid Factor (RF) IgM Isotype, Serum


new:
Rheumatoid Factor (RF) Turbidimetry, Serum


new:
RSV (Respiratory Syncytial Virus) Abs, IgG


new:
RSV (Respiratory Syncytial Virus) Abs, IgM


new:
Saccharomyces Cerevisiae Antibodies, IgA, Serum


new:
Saccharomyces Cerevisiae Antibodies, IgG, Serum


old:
Urine Albumin to Creatinine Ratio or ACR


new:
SCREEN AND LEVEL ANTIEPILEPTIC-SERUM  By GC-MS


new:
SCREEN AND LEVEL BENZODIAZEPINES - SERUM by GC_MS


new:
SCREEN AND LEVEL OF TRICYCLIC ANTIDEPRESSENT By GC-MS


old:
Urine Protein and Urine Protein to Creatinine Ratio


new:
Seminal Fluid Analysis:Routine(physical, sperm density, motility, morphology, cell counts)


new:
Soluble Transferrin Receptor (sTfR), Serum


new:
SPECIAL STAINS ON TISSUE Grimelius, silver stain for fungus


new:
SPECIAL STAINS ON TISSUE Methyl green pyronin


new:
SPECIAL STAINS ON TISSUE Orcein for copper


new:
SPECIAL STAINS ON TISSUE Orcein for Hepatitis B Antigen


new:
SPECIAL STAINS ON TISSUE Perls stain for hemosiderin


new:
SPECIAL STAINS ON TISSUE Tartare resistant acid phosphatase


new:
SPECIAL STAINS ON TISSUE Trichrome stain


new:
Thrombophilia Genetic Panel (APCR, MTHFR & Prothrombin Mutations), PCR


new:
Tissue Transglutaminase Ab, IgA, Serum :


new:
Tissue Transglutaminase Ab, IgG, Serum :


new:
Total Iron Binding Capacity (TIBC), Serum


new:
Toxocara canis Antibody Structure, Serum


new:
Treponema pallidum Hemagglutination (TPHA), Serum


new:
Treponema pallidum IgG & IgM, Antibodies, Serum


new:
Trichomonas vaginalis, Yeast & Fungi, Wet Mount


new:
Tumor Marker ABL-BCR Quantitative by PCR


new:
Tumor Marker Translocation Qualitative by PCR: InV.(16)


new:
Tumor Marker Translocation Qualitative by PCR: t (1, 19)


new:
Tumor Marker Translocation Qualitative by PCR: t (12, 21)


new:
Tumor Marker Translocation Qualitative by PCR: t (15, 17)


new:
Tumor Marker Translocation Qualitative by PCR: t (18, 14)


new:
Tumor Marker Translocation Qualitative by PCR: t (4, 11)


new:
Tumor Marker Translocation Qualitative by PCR: t (8, 18)


new:
Urethral Discharge: (swabbing, gram stain, wet mount)


new:
Very Low Density Lipoprotein (VLDL), Serum


new:
Vitamin B6 ( Pyridoxal Phosphate ) Serum:


new:
VOLATILES SOLVENTS( SERUM) BY GAS CHROMATOGRAPHY


new:
Von Willebrand (Factor VIII Related Ag), Plasma


new:
Wash / Lavage, routine cytology for malignant cells


# Test Results

Reference Range G:
(Female) Follicular : 	2.4 - 12.6
Mid cycle : 	14.0 - 95.6
Luteal phase	 : 1.0 - 11.4
Post-Menopause : 	7.7 - 58.7.0
(Male	) :  			1.7 - 8.6


Reference Range G:
Non-pregnant Females: < 5.0
1-3 weeks LMP: 5-25 mIU/ml
3 weeks LMP: 5 – 50 mIU/ml
4 weeks LMP: 5 – 426 mIU/ml
5 weeks LMP: 18 – 7,340 mIU/ml
6 weeks LMP: 1,080 – 56,500 mIU/ml
7 – 8 weeks LMP: 7, 650 – 229,000 mIU/ml
9 – 12 weeks LMP: 25,700 – 288,


Test Name:
Lupus Anticoagulant (Two Methods), Plasma


Test Name:
Prostatic-Specific Antigen (PSA), Free, Serum


Test Name:
Prostatic-Specific Antigen (PSA), Total, Serum


Result:
Clear, RBC count: 2-3/HPF, WBC: 2-3/HPF, Epithelia


Test Name:
Interval between ejaculation and start of analysis (min)


Reference Range G:
Multicentre studies now in progress.Current values 15% or more normalforms


Result:
Epithelial : many 
mucous : many 
few of fat bod


Reference Range G:
Negative : <= 0 - 0.499
Positive : > 0.6


Reference Range G:
<35.0 Deficiency
35.0 - 75.0 Insufficiency
> 75.0 Optimal


Test Name:
Anti Thyroid Peroxidase (TPO) Antibodies, Serum


Test Name:
Interval between ejaculation and startof analysis (min)


Reference Range G:
50% or more (a + b)      25% or more (a)


Result:
Advised of redo after 3-5 days of abstinece


Result:
after 30 min : 30%
after 60 min : 40%
after 90 m


Result:
after 30 min : 20%
after 60 min : 20%
after 90 m


Result:
after 30 min : 30%
after 60 min : 20%
After 90 m


Result:
Epithelial : few
Crystals : Calcium Oxalate few


Test Name:
Total Iron Binding Capacity (TIBC), Serum


Test Name:
Phil Chromosome or BCR-ABL by PCR ( Quantitative)

Result:
BCR-ABL/ABL Ratio (%): 0.05 %
ABL COPIES: 56,969


Result:
Calcium Oxalate: +1
Mucus : +1
Amporhous phospha


Result:
Normochromic Macrocytic RBCs
WBCs: Normal Count a


Result:
- Specimen submitted for cytology
One fixed smear


Result:
Streptococci Bacteria Was Isolated.
Gram Positive


Test Name:
Pregnancy Test, Serum  (sens.= 20mIU/ml)


Result:
Gram Positive Cocci Bacteria Was Isolated
Number


Test Name:
N-terminal pro-B-type natriuretic peptide (NT-proBNP)


Result:
Toxoplasma IgG: 447
Rubella IgG: 28
HSV IgG: 0.1


Result:
No structure or numerical abnormality was detected.


Result:
The kayotype consistent with normal female genotype.


Result:
-Gross Description
Specimen received fixed in formalin solution, labeled with patient name.
Polipoidal shape cervical biopsy, measuring 1.5 x 1.5 x 0.4 cm .
Totally submitted and embedded in one cassette.

-Microscopic Description
Serial levels reveal endocervical tissue with features of benign, inflamed
endocervical polyp with foci of inmature squamous metaplasia . No evidence of
dysplasia, CIN or invasive malignancy .

-Histopathological Diagnosis
Cervical biopsy : - Benign inflamed endocervical polyp .


Result:
Hypersegmented neutrophils  wih toxic granulation and a typical lymphocytes.
Anisocytosis RBCs.
Platelets clump.


Test Name:
Tissue Transglutaminase Ab, IgA, Serum :


Result:
No M band was noticed. Slight increase in gamma chain may be due to chronic infection.


Reference Range G:
Male : 0.6-13.7
Female : 0.19-9.13
Female more than 48 years : 0-0.31


Result:
Gram positive staphylococcus species Was Isolated.
< 50 CFU


Result:
Specimen submitted for cytology
One fixed smeared slide received labeled with patients name.
Preparation and staining done by Ali Al Dmour.
- Specimen Assessment
Specimen satisfactory for evaluation.
- Descriptive Diagnosis
- Hemorrhagic smear reveals superficial and intermediate squamous cells and groups of
endocervical component with squamous metaplasia. Inflammation is moderate.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.
- Conclusion
- Hemorrhagic smear, moderate inflammatory pattern.


Result:
One fixed smeared slide received labeled with patients name.
Preparation and staining done by Ali Al Dmour.
- Specimen Assessment
Specimen satisfactory for evaluation.
- Descriptive Diagnosis
- Smear reveals superficial and intermediate squamous cells. No endocervical
component. Inflammation is moderate .
- No CIN or invasive malignancy.
- No Koilocytic change/atypia .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.
- Conclusion
- Moderate inflammatory pattern, ectocervical smear .
- Recommendation
Routine follow up.


Result:
Rbc: 6-8
protein: +4
Bacteria: +3
uric acid
Few epithlial


Test Name:
Tissue Transglutaminase Ab, IgG, Serum :

Reference Range G:
Negative:Less Than 12 
Equivocal:12-18
Positive:More Than 18


Reference Range G:
Negative:Less Than 10 
Positive:More Than Or Equal 10


Result:
2.1
Albumin : 858 ug/dl
Creatinine : 400 mg/dl


Result:
FMF E 148Q                      		Heterozygous mutant
FMF P 369S                       		Heterozygous mutant
FMF F 479L                       		Negative
FMF M 680I (G/C)           	Negative
FMF M 680I (G/A)           	Negative
FMF I 692del                    		Negative
FMF M 694V                    		Negative
FMF M 694I                      		Negative
FMF K 695R                      		Negative
FMF V 726A                      		Negative
FMF A 744S                      		Negative
FMF R 761H                     		Negative
FMF Impression            		Compound heterozygous mutantr FMF gene


Reference Range G:
Negative < 17

Negative < 17
Positive > 17


Result:
mixed growth of gram positive cocci and gram negative Baccili


Result:
Only 1 dead sperm per HPF were seen ..Chamber dilution showed 2 mil sperm count


Test Name:
DMD (Duchenne Muscular Dystrophy)/Becker Deletion

Result:
No deletion nor duplication have been noted in the DNA extracted


Result:
Salmonella Paratyphi a (AH) : Positive : titre 1/320
Salmonella Paratyphi A (AO) : Negative
Salmonella Paratyphi B: Negative
Salmonella Paratyphi b: Negative
Salmonella Typhi A: Negative
Salmonella Typhi B: Negative


Test Name:
Human Immunodeficiency Virus 1&2 Ag/ Ab's Serum


Result:
Gross Description
Specimen received fixed in formalin solution, labeled with patient name.
1.8x1.2x0.5 cm, fibrofatty fragment.Totally submitted in three representative sections
and embedded in one cassette.
Microscopic Description
Serial levels reveal fibrofatty subcutaneous tissue containing multilocular cystic lesion with
no specific lining. The picture is consistent with ganglion .
Histopathological Diagnosis
Subcutaneous tissue biopsy : - Ganglion .


Result:
- Descriptive Diagnosis
- Smear reveals superficial and intermediate squamous cells and groups of endocervical
component. Inflammation is mild .
- No CIN or invasive malignancy.
- No Koilocytic change/atypia .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.
- Conclusion
- Mild inflammatory pattern.
- Recommendation
Routine follow up.


Result:
Increase in spermatocytes compareed to earlier reports , many dead sperms with large heads and short tail


Test Name:
Treponema pallidum Hemagglutination (TPHA), Serum


Result:
a good progressin through the test period (2 hrs)


Result:
Had problems with baldder and treatment delayed sperm collection


Result:
White cell :Numerus
Many spermtids were seen
manly lymphocyte


Result:
Numersous WBSc where seen in the HPF , therefore semen culture is recommended.


Result:
Cow`s milik : +++
Wheat : +
Tea: +
Ginger ++


Reference Range G:
Males Adults: 0.13-0.97  
Prepubertal: 0.07-0.52 	
Follicular: 0.15 0.70	
Luteal: 2.0 - 25.0 
Postmenopausal: 0.06-1.6
Pregnancy:
1st trimester:  10.3-44.0                     
2nd trimester: 19.5 -82.5 
3rd trimester: 65-29 
if less than 5 in first trimester is considered ectopic. 
if less than 25 during pregnancy …fetus viability should be established


Test Name:
GTT (Glucose tolerance test) per serum glucose sam


Reference Range G:
Males Adults: 0.13-0.97  
Females
-Prepubertal: 0.07-0.52 	
-Follicular:    0.15 0.70	
-Luteal: 2.0 - 25.0 
-Postmenopausal: 0.06-1.6 
Pregnancy:                                  
- 1st trimester: 10.3-44.0     
- 2nd trimester: 19.5 -82.5        
-3rd trimester: 65-229


Result:
E. Coli : cyst
ancylostoma duodenale : ova


Result:
- Specimen submitted for cytology
One fixed smeared slide received labeled with patient`s name.
Preparation and staining done by Ali Al Dmour.
- Specimen Assessment
Specimen satisfactory for evaluation.
- Descriptive Diagnosis
- Smear reveals superficial and intermediate squamous cells and groups of 
endocervical component with squamous metaplasia. Inflammation is mild .
- No CIN or invasive malignancy.
- No Koilocytic change/atypia .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.
- Conclusion
- Mild inflammatory pattern.
- Recommendation
Routine follow up.


Reference Range G:
Negative : < 150      Positive : > = 150


Reference Range G:
Negative : < 10     Positive : > = 10
Positive : > 10


Reference Range G:
Negative : < 9     Equivocal : 9 - 11     Positive: > 11


Result:
- Smear reveals superficial and intermediate squamous cells. Endocervical component
present. Inflammation is minimal.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.


Result:
- Normal Pap smear.
- Recommendation
Routine follow up.


Result:
- Specimen submitted for cytology
One fixed smeared slide received labeled with patient`s name.


Result:
- Moderate inflammatory pattern.
- Recommendation
- High vaginal swab culture is recommended .


Result:
- Smear reveals superficial and intermediate squamous cells and groups of endocervical
component with squamous metaplasia. Inflammation is moderate.- No ASCUS.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infectio


Result:
Genetics Sickle cell mutatuions test is recommended to confirm the mutation


Result:
HbA2 value of 5.1% is an indication of Beta thalassemia minor.


Reference Range G:
Males Adults: 0.13-0.97  
Females
-Prepubertal: 0.07-0.52 	
-Follicular:    0.15 0.70	
-Luteal: 2.0 - 25.0 
-Postmenopausal: 0.06-1.6 
Pregnancy:                                  
- 1st trimester: 10.3-44.0     
- 2nd trimester: 19.5 -82.5


Reference Range G:
12-14
INR: <1.1 Normal
INR:2-3.8 Theraputic
INR > 4.0 Abnormal


Test Name:
Anti Thyroid Microsomal Antibodies, Serum


Result:
- Smear reveals superficial and intermediate squamous cells and groups of endocervical
component with squamous metaplasia. Inflammation is moderate to severe.
- Candida albicans pseudohyphae with yeast forms present.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.


Result:
- Moderate to Severe inflammatory pattern- Candidiasis.
- Is the lady on HRT .
- Recommendation
Treat the infection and repeat as clinically appropriate.


Result:
Conclusion
- Hypocellular smear, mild inflammatory pattern. Few dyskeratotic cell present.
- Recommendation
Repeat smear as clinically appropriate is advised .


Result:
- Hypocellular smear reveals superficial and intermediate squamous cells and few
dyskeratotic cells. No endocervical component. Inflammation is mild.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.


Result:
Gram Positive Cocci  (No Nisseria gonorrhoeae are seen)


Result:
Gross Description
Specimen received fixed in formalin solution, labeled with patient`s name consists of
1x1x0.5 cm, fragment, polypoidal shape, the surface is smooth. Bisected and totally
submitted and embedded in one cassette.
 (Gross examination done by : DR. N.B & A.D ).
Microscopic Description
Serial levels reveal cervical tissue with features of benign ectocervical polyp containing
multiple small Nabothian cysts and foci of congestion. No evidence of neoplasia.
Histopathological Diagnosis
CERVICAL POLYPECTTOMY : -
 - BENIGN, INFLAMED ECTOCERVICAL POLYP.


Reference Range G:
Negative 	< 0.8
Equivocal  0.8-1.2
Positive  	> - 1.2


Result:
All Bands revealed a total number of 46 chromosomes in each cell
with the sex chromosomes being XX. Detailed analysis for each somatic and sex chromosomes was normal.
The 16qh+ alteration described below is an increase in the length of the heterochromatin on the long arm of
chromosome 16 and is a chromosomal polymorphism found in the general population with no known
clinical significance.


Reference Range G:
Negative 	< 0.8
Equivocal 	0.8 - 1
Positive 	> - 1.2


Reference Range G:
Postive    >12
Negative < 8
Equivocal 8-12


Reference Range G:
1-	Kidney damage with normal kidney function	90 or above
2-	Kidney damage with mild loss of kidney function	89 to 60
3a-	Mild to moderate loss of kidney function	59 to 44
3b-	Moderate to severe loss of kidney function	44 to 30
4-	Severe loss of kidney


Result:
This result does not role out microdeletion syndromes or micro rearrangements .


Result:
No structural or numerical abnormality was detected . 
The karyotype consistent with normal male .


Result:
No structural or numerical abnormality was detected . 
The karyotype consistent with normal female .


Test Name:
Stool Helicobacter pylori Antigen, By Elisa


Test Name:
Rheumatoid Factor (RF) Turbidimetry, Serum


Test Name:
Glutamic Acid Decarboxylase (GAD65) Abs, Serum


Result:
- Smear reveals superficial and intermediate squamous cells and groups of endocervical
component with squamous metaplasia. Inflammation is moderate.
- No ASCUS.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.


Result:
No sperms were seen
many spermatocytes were seen


Reference Range G:
Positive    >12
Negative < 8
Equivocal 8-12


Test Name:
CATECHOLAMINES, FRACTIONATION, ( HPLC )-Plasma

Result:
Adrenaline : 103
Noradrenaline: 733
Dopamine: 2633

Reference Range G:
Adrenaline : <100
Noradrenaline: <600
Dopamine: <100


Reference Range G:
1-	Kidney damage with normal kidney function >90      
2-	Kidney damage with mild loss of kidney function 	89 to 60
3a-	Mild to moderate loss of kidney function 	59 to 44
3b-	Moderate to severe loss of kidney function 	44 to 30
4-	Severe loss of kidne


Reference Range G:
1-Normal kidney function >90      
2-	Kidney damage with mild loss of kidney function 	89 to 60
3a-	Mild to moderate loss of kidney function 	59 to 44
3b-	Moderate to severe loss of kidney function 	44 to 30
4-	Severe loss of kidne


Reference Range G:
> 90 : Normal kidney function     
60-89 : 	Kidney damage with mild loss of kidney function
44-59: 	Mild to moderate loss of kidney function
30-44: 	Moderate to severe loss of kidney function
15-29 : 	Severe loss of kidney function 
<15 : Kidney Fail


Reference Range G:
> 90 : Normal kidney function     
60-89 : 	Kidney damage with mild loss of kidney function
44-59: 	Mild to moderate loss of kidney function
30-44: 	Moderate to severe loss of kidney function
15-29 : 	Severe loss of kidney function 
<15 : Kidney Failure


Result:
Normchromic, microcytic RBCs,
Normal platelets


Result:
Gram Positive Streptococci( S. pneumoniae)


Test Name:
Rheumatiod Factor (RF) IgG Isotype, Serum


Result:
Gram Positive cocci (mostly Streptococci)


Reference Range G:
Healthy Range: 0.5-1.4                                                                              >1.9 indicates early insulin resistance                  >2.9 indicates significant insulin resistance


Test Name:
GTT (Glucose tolerance test) per serum glucose sample


Reference Range G:
< 0.8
Equivocal 	0.8 - 1
Positive 	> - 1.2


Result:
Hypochromic Microcytic RBCS 
Eosinophillia and LargeLymphosis


Result:
- Specimen submitted for cytology
One fixed smeared slide received labeled with patient name.
Preparation and staining done by Ali Al Dmour.
- Specimen Assessment
Specimen satisfactory for evaluation.
- Descriptive Diagnosis
- Hemorrhagic smear reveals scattered superficial and intermediate squamous
cells and groups of endocervical component. Inflammation is mild.
Hemorrhage is obscuring about 50% of the smear.
- No ASCUS.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.
- Conclusion
- Mild inflammatory pattern, hemorrhagic smear.
- Recommendation
- Follow up as clinically appropriate.


Test Name:
Chlamydia trachomatis Antibodies, IgG, Serum


Test Name:
Chlamydia trachomatis Antibodies IgM, Serum


Result:
- Smear reveals superficial and intermediate squamous cells and groups of
endocervical component. Inflammation is mild.
- No ASCUS.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infectio


Result:
- Smear reveals superficial and intermediate squamous cells and groups of
endocervical component. Inflammation is mild.
- No ASCUS.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infection.


Result:
One fixed smeared slide received labeled with patien's name.


Test Name:
Anti-Acetylcholine Receptor Abs (IF) Qualitative


Result:
No parasite were seen in thick blood smear


Reference Range G:
Negative: <0.6                   Low CVD Risk: 0.6-1.0                             Moderate CVD RISK: 1.0-3.0                                               High CVD RISK : > 3.0


Reference Range G:
MALE :  > 45                                                                               FEMALE: > 50


Reference Range G:
DIABETIC : <100                                                                         NON-DIABETIC: <130


Result:
Positive
Need To Do HBV  ,Quantitative RT-PCR


Result:
- Moderate inflammatory pattern atrophic smear


Result:
- Smear reveals predominantly intermediate squamous cells and groups of
parabasal cells. Endocervical component present. Inflammation is moderate.
- No ASCUS.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infecti


Result:
One fixed smeared slide received labeled with patient's name.
Preparation and staining done by Ali Al Dmour.


Result:
- Smear reveals predominantly intermediate squamous cells and groups of
parabasal cells. Endocervical component present. Inflammation is moderate.
- No ASCUS.
- No CIN or invasive malignancy.
- No Koilocytic change/atypia (H.P.V) .
- No changes of Chlamydia infection.
- No Candida albicans.
- No Trichomonas vaginalis.
- No viral inclusions (Other than H.P.V).
- No changes of Gardnerella vaginalis infec


Result:
Normal Blood Smear Showing  Normochromic Red Blood  Cells & Normal White Blood Cells


Result:
1) Before therapy : 18.13
2) After therapy : 1.61


# test_infor

Other Names:
Anti-beta-2 glycoprotein 1; β2-glycoprotein 1 antibodies; Beta 2GP1 Ab

Formal Name:
Beta-2 glycoprotein 1 antibodies (IgG, IgM, and very rarely IgA)

Related Tests:
Cardiolipin antibodies, lupus anticoagulant, antiphospholipid antibodies, anti-phosphatidylserine antibodies, anti-prothrombin antibodies

Why:
help investigate inappropriate blood clot formation; to help determine the cause of recurrent miscarriage; as part of an evaluation for antiphospholipid syndrome (APS)

When:
en you have had one or more unexplained blood clots in a vein or artery; when you have had recurrent miscarriages, especially in the second and third trimesters

Sample Type:
blood sample taken from a vein in your arm

Test General info:
This test detects and measures one or more classes (IgG, IgM, or very rarely IgA) of beta-2 glycoprotein 1 antibodies. Beta-2 glycoprotein 1 antibody is one of three primary antiphospholipid antibodies, which are autoantibodies (produced by the body and act against the body) that target the body’s own lipid-proteins (phospholipids) found in the outermost layer of cells (cell membranes) and platelets. The other two antiphospholipid autoantibodies are anti-cardiolipin antibody (anti-CL) and lupus anticoagulant (LA).Antiphospholipid antibodies interfere with the body’s blood clotting process in a way that is not fully understood. Their presence increases a person’s risk of developing inappropriate blood clots (thrombi) in both arteries and veins. Antiphospholipid antibodies are most frequently seen in those with antiphospholipid syndrome (APS), an autoimmune disorder associated with blood clots (thrombotic episodes), a low platelet count (thrombocytopenia), or with pregnancy complications such as pre-eclampsia and recurrent miscarriages, especially in the 2nd and 3rd trimesters.Antiphospholipid antibodies may also be detected in the circulation of patients with other autoimmune disorders, such as systemic lupus erythematosus (SLE).

Test Result meaning:
Is there anything else I should know?How is it used?Beta-2 glycoprotein 1 antibody tests are used alongside cardiolipin antibody and lupus anticoagulant testing to help diagnose the cause of unexplained blood clots (thrombotic episodes) or recurrent miscarriages, to help diagnose antiphospholipid syndrome (APS), or as part of the investigation of other autoimmune disorders (e.g. SLE).If all three of the initial antiphospholipid antibody tests for the IgG and IgM classes are negative, but APS is still suspected, then the IgA class of these antibodies may be tested, along with other less common antiphospholipid antibodies, such as anti-phosphatidylserine and anti-prothrombin. However, the value of testing for the IgA class of antiphospholipid antibodies remains controversial. According to the international consensus statement on APS, the presence of the IgA class (either anticardiolipin antibodies or beta-2 glycoprotein 1 antibodies) does not fulfill the laboratory criteria for diagnosis of APS.If a beta-2 glycoprotein 1 antibody is detected in the blood, the same test will be repeated 12 weeks later to determine whether its presence is persistent or temporary. If a person with an autoimmune disorder tests negative for antiphospholipid antibodies, testing may be repeated at a later time to determine if the person has begun to produce antibodies, as they may develop at any time in the course of disease.^


Other Names:
Ergocalciferol (vitamin D2); Cholecalciferol (vitamin D3); Calcidiol (25-hydroxyvitamin D [25(OH)D]); Calcifidiol (25-hydroxy-vitamin D); Calcitriol (1,25 dihydroxyvitamin D [1,25(OH)(2)D])

Formal Name:
25-hydroxy-vitamin D (Calcidiol); 1,25 dihydroxy-vitamin D (Calcitriol)

Related Tests:
Calcium; Phosphate; Parathyroid Hormone (PTH); Magnesium; Bone Markers; Trace Elements

Why:
investigate a problem related to bone metabolism or parathyroid function, possible vitamin D deficiency, malabsorption and to monitor some patients taking vitamin D.

When:
ur doctor may request a vitamin D measurement in the following situations:If you are found to have an abnormal calcium, phosphate, and/or parathyroid hormone (PTH) concentration in the blood.As part of the investigation of some forms of bone disease or muscle weakness/pain.If you have disease of the gastrointestinal tract that could result in malabsorption.If you are receiving certain anticonvulsant drugs.

Test General info:
The main role of vitamin D is to help regulate the absorption of calcium, phosphate, and (to a lesser extent) magnesium from the gut. Vitamin D is vital for the growth and health of bone; without it, bones will be soft, malformed, and unable to repair themselves normally, resulting in the disease called rickets in children and osteomalacia in adults. Vitamin D also plays an important role in musculoskeletal health.There are two forms of vitamin D that can be measured in the blood - 25 hydroxyvitamin D and 1,25 dihydroxyvitamin D. 25 hydroxyvitamin D is the major form of vitamin D and is the relatively inactive component from which the active hormone, 1,25 dihydroxyvitamin D is made. 25 hydroxyvitamin D is the most useful indicator of vitamin D status in individuals, and is the form most commonly measured. This is because 25 hydroxyvitamin D remains in the blood longer and is present at much higher concentrations than 1,25 dihydroxyvitamin D. Occasionally it may be necessary to measure 1,25 dihydroxyvitamin D to find out whether the kidney is converting an appropriate amount of inactive 25-hydroxyvitamin D to the active 1,25 dihydroxyvitamin D.Vitamin D comes from 2 sources: It is 1) produced in the skin following exposure to sunlight (endogenous source) and 2) ingested from foods and supplements (exogenous source). The chemical structures of these types of vitamin D are slightly different. Vitamin D2 (ergocalciferol) is the form found in foods of vegetable origin and vitamin D3 (cholecalciferol) is the form produced in the skin and is also found in foods of animal origin. Both forms of vitamin D may be present in vitamin preparations and supplements. For most people, the majority (up to 90%) of vitamin D is formed following the action of sunlight upon the skin. Both vitamin D2 and vitamin D3 are converted to 25-hydroxyvitamin D and then to 1,25 dihydroxyvitamin D.Some vitamin D blood tests do not distinguish D2 and D3 forms of the vitamin and the result therefore gives an indication of the total amount of vitamin D present within the bloodstream.

Test Result meaning:
Is there anything else I should know?How is it used?25-hydroxy vitamin D may be requested as part of the investigation of abnormal bone metabolism (reflected by abnormal calcium, phosphate or PTH blood test results). Recent guidelines from the National Osteoporosis Society (2013) recommend that 25-hydroxy vitamin D should also be measured in:Patients with bone diseases that may be improved by giving vitamin D supplementation.Patients with bone diseases that may need supplementation of vitamin D prior to starting a specific form of treatment.Patients with musculoskeletal symptoms that may be due to vitamin D deficiency (e.g. long term wide spread pain).Routine monitoring of vitamin D is usually unnecessary, but may be required for patients that continue to have symptoms of vitamin D deficiency despite supplementation. Since vitamin D is a fat-soluble vitamin and is absorbed from the intestine like a fat, it may also need to be monitored in individuals with diseases that interfere with fat absorption, such as cystic fibrosis and Crohn’s disease, It is also used to monitor people who have had gastric bypass surgery and may not be able to absorb enough vitamin D.Screening for vitamin D deficiency is not recommended in asymptomatic individuals.^


Why:
help diagnose a serotonin-secreting carcinoid tumour

When:
en you have symptoms suggestive of a carcinoid tumour such as flushing, diarrhoea and/or wheezing

Test General info:
This test measures the amount of serotonin in the blood. Serotonin is a chemical derived from the amino acid tryptophan. It is produced as needed by the nervous system, mainly the brain, but also by special cells in the bronchial tubes (lungs) and gastrointestinal tract. In the blood, more than 90% of serotonin is found in the platelets. Serotonin helps transmit nerve impulses and constrict blood vessels, is a participant in the wake-sleep cycle, and affects mood. Serotonin is metabolised by the liver and its metabolites, primarily 5-HIAA (5-hydroxyindoleacetic acid, a muscle stimulant), are excreted in the urine. Normally, serotonin is present in small varying quantities in the blood. Large quantities of serotonin and 5-HIAA may be produced continuously or intermittently by some carcinoid tumours. Carcinoid tumours are slow-growing masses that can form in the gastrointestinal tract, especially in the appendix, and in the lungs. They are one of several types of tumours that arise from cells in the neuroendocrine system – cells that are found in organs throughout the body and that have both nerve and endocrine aspects. The serotonin produced by carcinoid tumours may cause symptoms such as flushing of the face, diarrhoea, a rapid heart rate, and wheezing, especially when the tumour has spread to the liver. This group of symptoms is referred to as the carcinoid syndrome.According to Cancer Research UK, carcinoid tumours are rare, with only 1,200 people diagnosed each year in the UK. Many more of these tumors may exist, but most remain small and do not cause any symptoms. When carcinoid tumours are discovered in asymptomatic patients during surgical procedures performed for other reasons, they are called ``incidental`` tumours. A small percentage of these tumours may eventually grow large enough to cause obstructions in the intestines or bronchial tubes of the lungs.

Test Result meaning:
Is there anything else I should know?How is it used?Serotonin may occasionally be requested following, a 24-hour urine 5-HIAA test to help diagnose carcinoid tumours. It is not generally used as a monitoring tool to evaluate the effectiveness of treatment or to detect recurrence of a carcinoid tumour. Monitoring tests may include 5-HIAA and Chromogranin A.^


Other Names:
5-hydroxyindoleacetic acid; HIAA; Serotonin metabolite

Why:
help diagnose and monitor treatment for a serotonin-secreting carcinoid tumour

When:
en you have symptoms suggestive of a carcinoid tumour such as flushing, diarrhoea, and/or wheezing; at intervals following treatment

Sample Type:
24-hour urine sample; rarely a random urine sample

Test General info:
This test measures the amount of 5-hydroxyindoleacetic acid (5-HIAA) in the urine. 5-HIAA is a muscle stimulant and the primary metabolite of serotonin, a chemical derived from the amino acid tryptophan. In health, most serotonin is produced by the gastrointestinal (GI) tract where it regulates intestinal movements. The remainder is produced by the central nervous system where it functions to regulate mood, appetite and the wake/sleep cycle. After it has been used by the body, serotonin is broken down in the liver, and its metabolites, including 5-HIAA, are excreted in the urine. Normally, only small amounts of 5-HIAA is present in the urine. However, large quantities of serotonin and 5-HIAA may be produced by some carcinoid tumours.Carcinoid tumours are typically slow-growing masses. The majority of carcinoid tumours form in the gastrointestinal tract but they can also form at other sites such as in the lungs and the pancreas. Many carcinoid tumours remain small and do not cause any symptoms. A small percentage of carcinoid tumours grow large enough to cause obstructions in the intestines or bronchial tubes of the lungs. Some carcinoid tumours can spread to other organs. The most common site of spread is to the liver.About 10% of carcinoid tumours, primarily those found in the gastrointestinal tract, will produce enough serotonin to cause symptoms such as flushing of the face, diarrhoea, a rapid heart rate, and wheezing. This collection of symptoms is referred to as the carcinoid syndrome. Such symptoms will usually only appear after the tumour has spread to the liver. The serotonin that causes the carcinoid syndrome may be released continuously or intermittently and can lead to significantly increased quantities of 5-HIAA in the urine.


Other Names:
17-OHP; 17-OH progesterone; Progesterone - 17-OH

Why:
screen for, detect, and monitor treatment for congenital adrenal hyperplasia (CAH); sometimes to help rule out other conditions

When:
as part of a routine newborn screen, when an infant has ambiguous genitalia i.e it unclear if the child is male or female
2. when a young female has hirsutism (excess hair) or other symptoms of virilization
3. when a male child has premature sexual development
4. periodically to monitor CAH treatment

Sample Type:
blood sample taken from a vein in your arm or blood from a heelprick for an infant.Saliva specimens may also be suitable for analysis in some specialist laboratories.

Test General info:
This test measures the amount of 17-hydroxyprogesterone (17-OHP) in the blood. 17-OHP is a steroid that is metabolised to make cortisol; it is a substance used by the body to make cortisol. Cortisol is a hormone produced by the adrenal glands that helps break down protein, glucose, and lipids, maintains blood pressure, and regulates the immune system. The production of cortisol is stimulated by adrenocorticotropic hormone (ACTH), a hormone produced by the pituitary gland. Concentrations of cortisol normally vary throughout the day, peaking around 8 am and declining in the evening.  Concentrations became elevated during illness and stress.

Several enzymes are required to convert 17-OHP to cortisol. If one or more of the enzymes is deficient or dysfunctional, then inadequate amounts of cortisol are produced and cortisol precursors concentrations, such as 17-OHP, increase in the blood. The adrenal glands use up some of the excess 17-OHP by producing more androgens. Excess androgens can cause virilization i.e. the development of male sexual characteristics, in both males and females. These enzyme deficiencies are inherited and the resulting excess androgens lead to a group of disorders called congenital adrenal hyperplasia (CAH). The most common cause of CAH is a lack of the enzyme 21-hydroxylase, accounting for about 90% of cases. This enzyme is the first in the chain of enzymes converting 17-OHP to cortisol. CAH is inherited as either a severe or mild type.

In the more serious form of CAH, severe 21-hydroxylase deficiencies and the influence of excess androgens can cause female babies to be born with ambiguous genitalia, i.e it makes it difficult to initially determine if they are male or female. Males with this condition will appear normal at birth but start to develop sexual characteristics earlier in childhood than normal. Females at birth have ambiguous genitalia and later may develop hirsutism during childhood and adolescence, have irregular menstruation, and have other signs of virilization.Up to 75% of males and females affected by 21- hydroxylase deficiency CAH will also produce less aldosterone, an adrenal hormone that regulates the retention of salt. This can lead to life-threatening ``salt-wasting`` crises in male and female newborns in which too much fluid and salt are lost in the urine. Those affected may have low blood sodium levels (hyponatremia), high blood potassium levels (hyperkalemia), decreased aldosterone, and increased plasma renin activity. The severe, though less common form is most often detected in infancy during routine newborn screening or during early childhood.

In the milder, yet more common form of this disorder, there may be only partial deficiency of the enzyme. This type, sometimes called late-onset or non-classical CAH, can have symptoms that begin to appear any time during childhood, adolescence, or adulthood. The symptoms can be vague, may develop slowly over time, and may vary from person to person. Though this form of CAH is not life-threatening, it may cause problems with growth, development, and puberty in children and may lead to infertility in adults. In adolescence and adulthood it is mainly females who are diagnosed. In a family with a history of CAH an adult male with infertility should be investigated for CAH.


Other Names:
24 Hour Urine Protein; Urine Total Protein; Urine Protein to Creatinine Ratio

Related Tests:
Urinalysis; Albumin; Microalbumin; Protein Electrophoresis; Total Protein

Why:
detect excessive protein escaping into the urine, to help evaluate and monitor kidney function, and to detect kidney damage

When:
part of a routine check-up, as a follow-up to a previous positive urine protein test, or if you have a disorder or disease that frequently affects the kidney

Test General info:
The urine protein test measures the amount of protein being excreted in the urine. There are several different kinds of urine protein tests. A semi-quantitative protein “dipstick” is frequently performed as part of a urinalysis, generally on a random urine sample. The quantity of protein in a 24-hour urine sample may be measured and reported as the amount of protein excreted per 24 hours. Also, the amount of protein in a random urine sample may be measured and reported as the ratio of protein to creatinine. Since saving all of the urine for a 24-hour period can be cumbersome for adults and difficult for infants and children, a random urine protein to creatinine ratio may sometimes be substituted for a 24-hour urine protein sample. Creatinine, a byproduct of muscle metabolism, is normally excreted into the urine at a constant rate. When a creatinine measurement is performed with a random urine protein test, the resulting protein/creatinine ratio can be used instead of the 24-hour urine protein test.Albumin, a protein produced by the liver, makes up about 60% of the protein in the blood. The rest is a mixture of globulins, including immunoglobulins. Proteins usually are not found in the urine. The kidneys (two organs found in the back at the bottom of the rib cage) filter the blood, removing waste and excreting it out of the body in the form of urine. When the kidneys are functioning normally, they retain or reabsorb filtered protein molecules and return them to the blood. If the kidneys are damaged, they become less effective at filtering, and detectable amounts of protein begin to find their way into the urine. Often, it is the smaller albumin molecules that are detected first. If the damage continues, the amount of protein in the urine increases, and globulins may also begin to be lost. Proteinuria (protein in the urine) is frequently seen in chronic diseases, such as diabetes and hypertension (high blood pressure), with increasing amounts of protein in the urine reflecting increasing kidney damage. With early kidney damage, the patient often has no symptoms. As damage progresses or if protein loss is severe, the patient may have symptoms such as oedema (swelling and fluid retention), shortness of breath, nausea, and fatigue. Excess protein production, such as may be seen with multiple myeloma, can also lead to proteinuria. The presence of albumin in the urine (albuminuria) has been shown to be a good indicator of kidney disease in patients with diabetes and with high blood pressure. Therefore, in some situations the doctor may test specifically for albumin, as opposed to total protein, in the urine (see microalbuminuria).


Related Tests:
Protein electrophoresis, Total protein, Blood gases, Liver function tests

Why:
help diagnose the cause of early onset emphysema and/or liver disease. To establish the risk of developing alpha-1 antitrypsin-related emphysema and/or liver disease and the likelihood that children might inherit the risk

When:
en you show signs of liver disease as an infant or young child, when you develop emphysema (a disease that damages the lungs) before age 40, or when you have a close relative with alpha-1 antitrypsin deficiency

Test General info:
Alpha-1 antitrypsin (A1AT) is a protein that is produced in the liver and released into the bloodstream. A1AT works by inactivating several enzymes but the main one is the enzyme elastase present in the lungs. Elastase is an enzyme produced by neutrophils (a type of white blood cell) and it is part of the body’s normal response to injury and inflammation. Elastase breaks down proteins so that they can be removed and used again by the body but, if its action is not regulated by A1AT, elastase will also begin to break down and damage lung tissue.

A1AT is the product of the protease inhibitor (SERPINA1) gene, of which everyone has two copies. Each SERPINA1 gene copy is responsible for producing half of the body`s A1AT. If there is a change (called a mutation) in one or both of the gene copies, then either less A1AT is produced or that which is produced does not work properly. If the A1AT production drops down to less than 30%, then the affected patient will experience a disease called alpha-1-antitrypsin deficiency. Patients with this disorder are at a considerable risk of developing emphysema (a long term lung disease which gradually gets worse) when the are young adults. If they smoke, or are exposed to dust or fumes at work, the lung damage can occur sooner and be more severe.

If the A1AT produced does not work properly it can accumulate in the liver cells that produce it. As it builds up in these cells, the A1AT forms abnormal protein chains which begins to destroy the cells and damage the liver. About 10% of those affected with A1AT deficiency will have liver disease as a newborn. Many with the disorder, improve on their own but in severe cases these infants may need a liver transplant to survive. A1AT deficiency is the most common genetic cause of liver disease in the in babies and children.

The amount and function of the A1AT produced depends on the inherited mutation. While there are more than 70 different variations (alleles) in the SERPINA1 gene, only a few are common. Most people in the UK, about 90%, have two copies of the normal M gene (MM). The most common of the abnormal forms are S and Z. Those people with: One copy of M and one of S or Z (MS or MZ) will produce reduced amounts of A1AT but should have enough to protect themselves. They will be carriers of the condition, however, and can pass it on to their children.  Two copies of S (SS) may have no symptoms or be moderately affected (they produce about 60% of the required A1AT).  One copy of S and one of Z (SZ) are at an increased risk of developing emphysema (they produce only about 40% of normal A1AT)  Two copies of Z (ZZ) are the most severely affected (they only produce about 10% of the required A1AT) along with those who have one or two copies of rare forms of the SERPINA1 gene which are `null` (they do not produce any A1AT)  Types of A1AT tests
Different A1AT tests can be used to measure the amount of A1AT, determine which types and concentrations of A1AT protein are present, and determine which SERPINA1 gene alleles a patient has.   Alpha-1 Antitrypsin, this test measures the amount of A1AT present.  Alpha-1 Antitrypsin Phenotype, separates out the different types of A1AT proteins produced and compares them to known patterns. It also allows an estimation of the amount of each type present. A protein electrophoresis test is sometimes used to look for a severe A1AT deficiency.  Alpha-1 Antitrypsin DNA testing, genetic testing that can be done to identify which protease inhibitor gene mutations (SERPINA1 gene alleles) are present. Only the most common mutations are usually tested (M, S, Z). This test can be used to help evaluate affected patients and their family members


Other Names:
Alloantibody Identification; Antibody ID, RBC; Ab ID

Related Tests:
Direct Antiglobulin; Indirect Antiglobulin; Blood Typing; Type and screen; Crossmatch

Why:
identify the specific antibody present when a direct antiglobulin test (DAT) or indirect antiglobulin test (IAT) is positive; to help identify the cause of a transfusion reaction or the cause of haemolytic disease of the foetus and neonate (HDFN)

When:
d cell antibody identification will be performed when an antibody screen using the IAT is found to be positive during a routine ‘group and save’ investigation which may be performed as a routine antenatal screening tests, prior to a blood transfusion or prior to surgery where a blood transfusion may be required; when a person has a positive DAT following a suspected transfusion reaction or is suspected to have an autoimmune haemolytic anaemia; when a newborn has HDFN.

Sample Type:
e test is performed on a sample of blood obtained from a vein in the arm using a needle. This is a process which may be referred to as ‘venepuncture’.

Test General info:
This test is designed to identify red cell antibodies that are present in the blood. A person may develop antibodies that react with antigens on red blood cells if they are exposed to ‘foreign’ red blood cells (e.g. through blood transfusion or during pregnancy). The red blood cell antibody identification test allows the laboratory to determine exactly which antibodies are present in the blood of a patient and this information can then be used to ensure that if they require blood or blood products, only those from a suitable donor (i.e. someone who does not have antigens on their cells that would react with the patient’s antibodies) are used.Red cells carry many different proteins and substances on their cell membrane surface that can act as antigens. An antigen is any substance that may be recognised by the immune system and stimulate an immune response that generates antibodies. The combination of antigens present on the surface of red blood cells determines your blood type. The major red cell antigens include the A, B and Rhesus (Rh) antigens that determine a person’s basic blood types (for more on this, see Blood Type and Blood Banking).The ABO blood group system is the most important blood group system in blood transfusion because our bodies naturally produce antibodies against A and B antigens, depending on whether or not they are present on our own red blood cells. A person who is blood group A will have A antigens on their own red cells and produces anti-B antibodies; a person with blood group B has B antigens on their red cells and produces anti-A antigens; a person of blood group O does not express A or B antigens on their own red cells and produces both anti-A and anti-B antibodies; a person with blood group AB has both A and B antigens on the surface of their red blood cells and does not produce antibodies to either of these. These naturally occurring antibodies are present in almost all by the age of 6 months and are very potent; if a person of blood group O was exposed to blood group A or B red cells, their antibodies would rapidly attack and destroy the foreign red cells. This destruction of red cells is called haemolysis.Blood groupNaturally occurring RBC antibodies that can be found in the blood
OAnti-A and anti-B
AAnti-B
BAnti-A
ABNone
The second most important blood group system in blood transfusion is the Rhesus blood group system. If the Rhesus D antigen is present then this makes an individual Rh D positive; this is combined with the ABO blood group to describe an individuals’ basic blood group, e.g. A+, B-, O+, etc. The Rh D antigen is very important because, although antibodies against Rh D do not occur naturally in individuals who are Rh D negative, if these individuals are exposed to even a small amount of Rh D antigen there is a potent immune response with production of anti-D antibodies which are also capable of destroying red cells and causing haemolysis. It is estimated that a Rh D negative person needs to be exposed to only one or two drops of Rh D positive blood to trigger the production of anti-D antibodies.The pattern of red cell antigens and therefore the blood group of an individual will be determined by their genetic make-up and so blood groups are inherited traits. The major blood group systems (ABO and Rhesus) represent only two of the 33 currently recognised blood group systems. These other blood group systems include the Kell, Duffy, Kidd and Lutheran groups to name a few. These other blood group systems are not associated with naturally occurring antibodies; as for the Rh system a person must be exposed to red cells carrying the foreign antigen before they mount an immune response producing antibodies.A person will not usually develop antibodies against the blood group antigens present on their own cells but may develop antibodies against other blood group antigens that they are exposed to, e.g. if they receive blood from another individual during a blood transfusion. This is the reason why a ‘group and screen’ procedure is performed to identify the blood group and screen for the presence of any antibodies in blood during the blood transfusion screening process. If antibodies to red cells are identified during this process the red cell antibody identification test is performed to identify exactly which antibodies are present and allow for screening of donor blood and selection of only matched units (i.e. antigen negative donor red cells) for cross-matching.The presence of red cell antibodies may also be detected by a positive direct antiglobulin test (DAT).It is very important to identify the presence of red cell antibodies. If a person with red cell antibodies is exposed to red cells which carry the antigenic target then antibodies will attach to the red cell antigen on the surface of the cells, coating the red cell and targeting it for destruction (haemolysis). Depending on the specific antibody-antigen reaction and the quantity of red cells that are affected, this can cause a reaction ranging from mild to severe and potentially life-threatening. Depending on the antigen and antibody involved and the quantity of RBCs affected, this can cause a reaction ranging from mild to severe and potentially life-threatening. It may happen immediately, such as during a blood transfusion, or take longer, from one to several days following a transfusion. When antibodies attach to antigens, the red blood cells can be destroyed, termed haemolysis. This can occur within the blood vessels or in the liver or spleen and cause symptoms and signs such as fever, chills, nausea, flank pain, low blood pressure, bloody urine, and jaundice.Specific antibody identification tests that characterise antibodies directed against the minor red cell blood group antigens are not routinely done on every patient, but these are performed when the presence of an antibody is detected through a positive IAT using a mixed panel of cells carrying all clinically significant antigens, or when antibodies are detected by a positive DAT.


Why:
detect the presence of anticentromere antibodies; to help diagnose limited cutaneous scleroderma

When:
en you have one or more symptoms that suggest CREST syndrome

Test General info:
The anticentromere antibody (ACA) is an antibody (a protein produced by the immune system) that targets the body`s own tissues. ACA targets the centromere, part of the chromosomes found in the nucleus of the body`s cells. The ACA is one of several autoantibodies that can be seen in the anti-nuclear antibody test. We can also measure the amount of ACA in the blood.The ACA test is used to help diagnose and monitor scleroderma. Scleroderma is actually a spectrum of rare “connective tissue” disorders that range from localised forms affecting only the skin (limited cutaneous) to diffuse forms that affect the skin and internal organs (systemic sclerosis or diffuse scleroderma). ACA is most associated with the limited cutaneous scleroderma (seen in about 60-80% of people). Only a small number of patients (approximately 5%) with diffuse scleroderma will show positive antibodies to ACA. Limited cutaneous scleroderma is often associated with one or more symptoms that are known collectively as CREST syndrome.CREST syndrome symptoms include:Calcinosis – calcium deposits under the skinRaynaud phenomenon – episodes of decreased blood flow to fingers and toes, causing them to turn white and blue Esophageal dysfunction – difficulty swallowing, acid reflux, and heartburn Sclerodactyly – tight, thick, shiny skin on the hands and fingers Telangiectasia – red spots on skin due to swollen capillaries


Other Names:
SACE (Serum Angiotensin Converting Enzyme)

Related Tests:
AFB culture; Liver function tests; Full blood count; Calcium

Why:
help diagnose and monitor sarcoidosis and to help distinguish it from other diseases which show similar symptoms

When:
en you have granulomas (masses of inflammatory cells) that create small bumps under the skin, a lingering cough, red watery eyes and/or other symptoms suggestive of sarcoidosis. When you have active sarcoidosis in order to follow its progress

Test General info:
Angiotensin converting enzyme (ACE) is an enzyme which helps regulate blood pressure. It converts angiotensin I (an inactive protein) to angiotensin II which causes arteries to contract, making them temporarily narrower and increasing the pressure of the blood flowing through them. ACE is produced throughout the body, but is present in especially high amounts within the lungs.  It is normally found at a high concentration in the bloodstream of those less than 20 years of age, and will usually then drop to lower concentrations in healthy adults. 

Increased amounts of ACE are sometimes produced by cells found at the outside borders of granulomas. Granulomas are a classic feature of sarcoidosis, a disorder (the cause of which is unknown) that often affects the lungs but may also affect many other body organs including the eyes, skin, nerves, liver, and heart. About 50-80% of patients with active sarcoidosis will have elevated concentrations of ACE in their bloodstream that will rise and fall as the severity of the disease changes. Granulomas, fibrosis, and  an elevated ACE concentration may also be seen in infections such as leprosy and tuberculosis. The granulomas form around the invading bacteria in these infections and can also form around irritant particles in poisons such as beryllium, asbestos, and silicon.


Related Tests:
INR (International Normalised Ratio, prothrombin time); Emergency and Overdose Drug Testing; Drugs of Abuse Testing; Liver Panel; AST; ALT

Why:
order to assess risk of liver damage after overdose and to decide on the need for protective antidote treatment. The antidote (N-acetyl cysteine) needs to be given within 15 hours of the overdose to be most effective.

When:
least 4 hours after a single overdose, or as soon as possible if more than one overdose has been taken within the last 1 or 2 days

Sample Type:
blood sample taken from a vein usually in an arm

Test General info:
The plasma or serum paracetamol concentration is being measured.


Other Names:
Serum ketone; Plasma ketone; Beta-hydroxybutyrate; Ketone bodies; Ketoacids; Beta-hydroxybutyric acid; Acetoacetate; Acetoacetic acid; Acetone

Related Tests:
Urine ketones; Urinalysis; Blood gases; Glucose

Why:
determine whether excessive ketones are present in the blood, to detect diabetic ketoacidosis (DKA), to detect alcoholic ketoacidosis and to monitor ketogenic diet therapy used in the treatment of epilepsy.

When:
en you have symptoms associated with ketoacidosis or being monitored on a ketogenic diet.

Sample Type:
blood sample taken from a vein in your arm or a drop of blood from your finger.

Test General info:
This test measures the amount of ketones in the blood. Ketones are produced during the bodies processing (metabolism) of fats. They are made when glucose is not available to the body’s cells as an energy source. When fatty acids are metabolised, ketones build up in the blood, causing first ketosis, and then ketoacidosis, a form of metabolic acidosis. This condition is most frequently seen with uncontrolled type 1 diabetes and can be a medical emergency.There are three ketones or ketone bodies, acetoacetate, acetone, and beta-hydroxybutyrate, a reduced form of acetoacetate. Beta-hydroxybutyrate is the main ketone present in severe diabetic ketoacidosis (DKA). Ketone tests measure one or more ketone bodies and therefore their results may be different.Blood testing gives a snapshot of the amount of ketones that have accumulated at the time that the sample was collected. Urine ketone testing shows recent rather than current blood ketones. Urine testing is much more commonly used than that for blood ketones. It may be performed by itself, with a urine glucose test, or as part of a a range of tests in urine called urinalysis. The urine methods measure either acetoacetate or both acetoacetate and acetone but they do not detect the other ketone beta-hydroxybutyrate.Blood ketones can be measured in a laboratory or with a handheld monitor. The laboratory test uses serum or plasma, the liquid portion of the blood after the cells have been removed, to measure acetoacetate and/or beta-hydroxybutyrate. When whole blood from a fingerprick is tested for ketones using a handheld monitor, the monitor measures beta-hydroxybutyrate. This test may sometimes be done at a person’s bedside in a hospital and with the appropriate test device by a person at home.


Formal Name:
Acid-fast bacillus smear; culture; and sensitivity

Why:
help identify a mycobacterial infection; to diagnose tuberculosis (TB) or to monitor the effectiveness of treatment

When:
you have symptoms, such as a long lasting cough, weight loss, fever, chills, and weakness, that your doctor thinks may be due to TB or another mycobacterial infection. If your doctor suspects that you have active TB or wants to monitor the effectiveness of TB treatment.

Sample Type:
ually, three specially collected spit (sputum) samples are collected early in the morning on different days. If you are unable to produce a sputum sample, a bronchoscope may be used to collect fluid during a procedure called a bronchoscopy. In children, s

Test General info:
The test looks for the presence of bacteria called acid-fast bacilli (AFB) which are rod shaped bacteria that can be seen and counted under the microscope in a specially stained sample on a glass slide, called an AFB smear. The most common AFB are of a type called mycobacteria. Mycobacterium tuberculosis is the most common species of mycobacteria, and is the most infectious. Most AFB smears and cultures are collected because the doctor suspects that the patient has TB. Only a few mycobacteria that have been identified cause infections in humans. They include: M. africanum, causes a disease similar to TB in certain parts of the world Mycobacteria avium-intracellulare complex (MAC), can cause a lung infection in immunosuppressed patients, such as the elderly and those with AIDS; this infection is not easily spread to other people, but can be difficult to treat because it is very resistant to antibiotics Other mycobacterial species, such as Mycobacterium marinum, grow in water, such as fish tanks, and can cause skin infections, while other rapidly growing mycobacteria can infect wounds and prosthetic devices  A few mycobacteria, such as M. bovis, can sometimes be transferred from animal to human Several smears from different samples should be checked for AFB since the number of bacilli may vary day to day. If acid-fast bacilli are present on any of the smears, a mycobacterial infection is likely. Since M. tuberculosis is the most common cause of respiratory infections with mycobacteria, a provisional diagnosis of TB can be made but other follow-up testing must be done to positively identify the acid-fast bacilli as either M. tuberculosis, or another mycobacteria species. Body fluids such as urine or CSF are used for AFB cultures at the same time as the smears. The cultures are used to grow AFB in the laboratory.  Since mycobacteria grow slowly, positive identification of the species that is/are present may take days to several weeks, while negative results (no mycobacterial growth) can take up to 6 to 8 weeks to confirm.


Related Tests:
Albumin, Creatinine, Glucose, Haemoglobin A1c

Why:
be screened for the early detection of kidney disease occurring as a complication of diabetes or hypertension (high blood pressure)

When:
nually after a diagnosis of diabetes or hypertension

Test General info:
Albumin is a protein that is present in large amounts in the blood. When the kidneys are working properly, only tiny amounts of albumin pass from the bloodstream into the urine. In kidney failure (the last stage of a slow process of decline in kidney function) large amounts of protein leak into the urine. A long time before this amount of damage, small changes in the blood-filtering parts of the kidney allow very small, but abnormal amounts of albumin to leak through, often as a result of having diabetes. Too little albumin is present to be detected by the usual simple urinalysis with a test strip (sometimes called a protein dipstick). This condition used to be termed microalbuminuria because of the low but significant concentration of albumin in the urine, not because it is a smaller type of the protein; however this term has been abandoned because it can be confusing. It is now simply called albuminuria.


Related Tests:
Partial Thromboplastin Time (PTT), Prothrombin Time (PT), Anti-Xa assay

Why:
monitor heparin and other anticoagulation when undergoing cardiopulmonary bypass, coronary angioplasty, and dialysis

When:
en you are receiving high dose heparin to prevent clotting during surgical procedures such as a cardiopulmonary bypass; when heparin levels are too high to allow monitoring with a PTT test and/or when a rapid result is necessary to monitor treatment

Test General info:
ACT is a blood clotting test that is used primarily to monitor high doses of heparin anticoagulant therapy. Heparin is a blood clot inhibitor that is usually given either intravenously (IV) or by subcutaneous (under the skin) injection. In moderate doses it is used to help prevent and treat inappropriate blood clot formation (thrombosis or thromboembolism) and is monitored using the partial thromboplastin time (PTT) test or the anti-Xa test.  Monitoring is a vital part of the anticoagulation therapy because a particular quantity of heparin will affect each person a little differently. If the amount of heparin administered is insufficient to inhibit the body’s clotting system, blood clots may form in blood vessels throughout the body. If there is too much heparin, the patient may experience excessive, even life-threatening, bleeding.High doses of heparin are given before, during, and for a short time after, open heart surgery. During these operations the patient’s heart and lungs are often bypassed. Their blood is filtered and oxygenated outside of the body using mechanical devices. The blood’s contact with artificial surfaces activates platelets and coagulation, initiating a sequence of steps that normally results in blood clot formation. A high dose of heparin prevents clot formation but leaves the body in a delicate dynamic balance between clotting and bleeding. At this level of anticoagulation, the PTT is no longer clinically useful as a monitoring tool. The PTT test involves an in vitro (test-tube) clotting reaction and at high levels of heparin it will not clot.The ACT is a rapid test that can be performed at a person`s bedside prior to surgery or other medical procedures and in or near the operating room at intervals during and immediately after the surgery. Like the PTT, it measures the inhibiting effect that heparin and other antithrombotic medications have on the body’s clotting system, not the actual level of heparin in the blood. ACT testing allows relatively rapid changes in heparin infusion, helping to achieve and maintain a constant level of anticoagulation. Once surgery is complete and the patient has been stabilised, heparin doses are usually decreased.The sensitivity of the ACT test to heparin depends on the method used. Some ACT tests are designed to monitor lower levels of heparin while others are best at monitoring high levels. When heparin reaches therapeutic maintenance levels, the ACT is usually replaced as a monitoring tool by the PTT test. The ACT test has also been used to monitor the inhibiting effect of a new class of drugs called direct thrombin inhibitors (e.g. bivalirudin) on the clotting system.


Related Tests:
Cortisol; Synacthen stimulation test; dexamethasone suppression test

Why:
diagnose adrenal and pituitary diseases such as Cushing`s syndrome, Cushing’s disease, Addison’s disease, adrenal tumours, and pituitary tumours; usually done as a diagnostic test once an abnormal cortisol level is detected

When:
your doctor has discovered that you have abnormal cortisol levels.  ACTH will help to sort out the possible cause of the abnormal cortisol result.

Test General info:
Adrenocorticotropic hormone (ACTH) is a hormone produced in the pituitary gland (located below the brain within the skull) to stimulate secretion of the hormone cortisol by the adrenal glands (small organs located at the top of each kidney). Stress can stimulate the release of ACTH. Cortisol is important for regulating glucose, protein, and lipid metabolism; suppressing the immune response; and maintaining blood pressure. Normally, ACTH concentration increases when cortisol is low and falls when cortisol is high.


When:
en the doctor suspects that the adrenal gland is not producing enough cortisol

Test General info:
Synacthen is a manufactured drug that acts like Adrenocorticotrophic Hormone (ACTH) by stimulating the adrenal gland to produce more cortisol. By measuring the rise in cortisol in the blood the doctor can see if the adrenal glands are secreting normal amounts of cortisol.


Other Names:
Partial Thromboplastin Time; PTT; Kaolin Cephalin Clotting Time (KCCT)

Formal Name:
Activated Partial Thromboplastin Time (aPTT)

Related Tests:
Prothrombin Time (PT); Fibrinogen; Thrombin Time; Lupus Inhibitor; Activated Clotting Time (ACT); von Willebrand screen;Coagulation Factors; Platelet Count

Why:
part of an investigation of a bleeding or thrombotic episode. To help evaluate your risk of excessive bleeding prior to a surgical procedure although numerous studies have shown that it cannot accurately estimate risk of bleeding in all patients. To monit

When:
en you have unexplained bleeding or thrombosis (a blood clot). When you are on unfractionated or intravenous (IV) heparin anticoagulant therapy. Sometimes as part of a pre-surgical screen

Sample Type:
blood sample is taken by needle from a vein in the arm

Test General info:
What is being tested? The activated partial thromboplastin time (aPTT or PTT) is a measure of the functionality of the intrinsic and common pathways of the coagulation cascade. The body uses the coagulation cascade to produce blood clots to seal off injuries to blood vessels and tissues, to prevent further blood loss, and to give the damaged areas time to heal. The cascade consists of a group of coagulation factors. These proteins are activated sequentially along either the extrinsic (tissue related) or intrinsic (blood vessel related) pathways. The branches of the pathway then come together into the common pathway, and complete their task with the formation of a stable blood clot. When a person starts bleeding, these three pathways have to work together.

Each component of the coagulation cascade must be functioning properly and be present in sufficient quantity for normal blood clot formation. If there is an inherited or acquired deficiency in one or more of the factors, or if the factors are functioning abnormally, then stable clot formation will be inhibited and excessive bleeding and/or clotting may occur.

The aPTT test measures the length of time (in seconds) that it takes for clotting to occur when reagents are added to plasma (liquid portion of the blood) in a test tube.


Related Tests:
PTT, Coagulation factors, D-dimer, Fibrinogen, Homocysteine, Lupus Anticoagulant, Proteins C & S, PT, PT 20210, Factor V Leiden

Why:
help investigate the cause of recurrent or inappropriate blood clotting; to help diagnose an antithrombin deficiency

When:
eferably a couple of months after a thrombotic episode and not whilst taking, or for at least 6 weeks after taking anticoagulants. Occasionally testing may be requested if you are not responding as your doctor expected to heparin anticoagulation therapy

Test General info:
Antithrombin testing measures the function and quantity of antithrombin.  Antithrombin is a protein produced by the liver to help control blood clotting. Normally, when a blood vessel is injured, the body activates a series of coagulation factors, in a process called the coagulation cascade, to form a blood clot and prevent further blood loss. Antithrombin helps to regulate this process by inhibiting the action of several activated coagulation factors, chiefly thrombin and factor Xa to slow down the process and prevent excessive or inappropriate clotting.There are two major causes antithrombin deficiency:1.Inherited2. AcquiredPatients with inherited or acquired antithrombin deficiency are at increased risk of venous thrombosis. 1. Inherited deficiencies are rare (about 1 in 5000 patients). If a person has one defective gene and one normal gene (heterozygous), then inappropriate clotting episodes typically start at about 20 to 30 years of age. Very rarely, an individual has two defective antithrombin genes, resulting in severe thrombotic problems soon after birth. Acquired antithrombin deficiencies may occur at any age. They are associated with a variety of conditions, including liver disease, extensive thrombosis, disseminated intravascular coagulation (DIC), blood loss, cancer, and nephrotic syndrome – a form of kidney disease. There are two types of inherited antithrombin deficiency. With type 1, normal antithrombin is produced, but the quantity made is insufficient. With type 2, there is a sufficient quantity of antithrombin produced, but it is dysfunctional. These types can be detected, differentiated, and assessed using two antithrombin tests. They are:Antithrombin activity, which evaluates the function of a patient’s antithrombinAntithrombin antigen, which measures the quantity of antithrombin present2. Acquired antithrombin deficiencies may occur at any age. These result in quantitative deficiency of antithrombin (type 1 deficiency). They are associated with a variety of conditions, including liver disease, extensive thrombosis, disseminated intravascular coagulation (DIC), blood loss, cancer, nephrotic syndrome – a form of kidney disease, metastatic (widespread) tumours and chemotherapy with asparaginase.


Other Names:
Hepatitis testing; Viral hepatitis testing; Hepatitis screening tests

Related Tests:
Hepatitis A; Hepatitis B; Hepatitis C; Liver function tests; AST; ALT; ALP; Bilirubin

Why:
detect and diagnose an infection with a hepatitis virus

When:
en you have symptoms of hepatitis and a viral infection is suspected to be the cause; when you have been exposed to one or more of the three most common hepatitis viruses: Hepatitis A, B, or C

Test General info:
An acute viral hepatitis panel is a group of tests often performed together to detect a viral hepatitis infection. Hepatitis is a condition characterised by inflammation and enlargement of the liver. It has many different causes including, for example, drugs and autoimmune diseases, but a common cause is infection with a virus. There are five hepatitis viruses identified so far that can cause the disease, including Hepatitis A, B, C, D, and E. Viral hepatitis is most commonly caused by Hepatitis A, B, or C. Cytomegalovirus (CMV) and Epstein-Barr virus (EBV) can also cause hepatitis.Regardless of cause, the signs and symptoms of hepatitis are the same. If acute symptoms are suspected to be caused by one of the hepatitis viruses or if someone is at an increased risk of being infected or has been exposed, then hepatitis testing can help determine if the person has been infected and which virus is present.Hepatitis A virus (HAV) is highly contagious and is usually contracted by ingesting food or water contaminated with the virus or by coming in direct physical contact with an infected person. While Hepatitis A is usually mild, it can on rare occasions cause a severe, acute disease; however, it does not cause a chronic infection as do Hepatitis B and C. A vaccine is available to prevent Hepatitis A.Hepatitis B virus (HBV) is the most common cause of acute viral hepatitis. It is spread through contact with blood or other body fluids from an infected person. Exposure can occur, for example, through sharing of needles for intravenous drug use or through unprotected sex. People who live in or travel to areas of the world where hepatitis B is prevalent are at a greater risk. Mothers can pass the infection to their babies, usually during birth. The virus, however, is not spread through food or water, casual contact such as holding hands, or coughing or sneezing. A vaccine can be given to protect against Hepatitis B.Hepatitis C virus (HCV) is also spread by exposure to contaminated blood, primarily though the sharing of needles by intravenous drug users, but also by sharing personal items contaminated by blood such as razors, through unprotected sex with an infected person, via health care occupational exposure, and from mother to baby during childbirth. Before tests for HCV became available in the 1990s, HCV was often transmitted by blood transfusions but this is now extremely rare. Currently, there is no vaccine to prevent infection with HCV.An acute viral hepatitis panel includes tests that can detect an infection caused by one of these three viruses. It typically includes:Hepatitis A antibody, IgMHepatitis B core antibody, IgMHepatitis B surface AgHepatitis C antibodySome of the tests detect IgM antibodies. These are the first antibodies produced during the initial stages of infection. As the disease progresses or resolves, IgM antibody levels decrease. Another test frequently performed measures hepatitis B surface antigen (HBsAg), which detects proteins on the surface of the virus. HBsAg is the earliest indicator of an acute Hepatitis B infection and is usually present even before symptoms appear, so this test is useful for screening those who are at high risk of infection or who may have been exposed. A test for Hepatitis C antibody cannot distinguish between an active or previous infection and further testing is necessary (e.g. molecular detection of HCV RNA) to determine whether the infection is current.


Other Names:
CHS; AChE; RBC Cholinesterase; Red Cell Cholinesterase; BChE; Plasma Cholinesterase; Pseudocholinesterase; PCHE

Why:
find out if you are likely to have temporary paralysis after being given a muscle relaxant called suxamethonium during surgery. This temporary paralysis is called suxamethonium apnoea. To screen for exposure to the effects of organic phosphorus insecticid

When:
you or a close relative have experienced suxamethonium apnoea after a surgical operation.To indicate possible insecticide poisoning with recent or frequent use of organic phosphorus insecticides. Occupational exposure can occur in workers involved with agriculture or the organic chemical industry.

Test General info:
There are two similar cholinesterase enzymes in the body; butrylcholinesterase (pseudocholinesterase) found in the blood plasma, intestine and white matter of the brain, and acetylcholinesterase found in red blood cells, grey matter of the brain and nerve endings.Acetylcholine is a chemical which is involved in the transmission of signals across nerve endings and which is broken down by the enzyme acetylcholinesterase. Any decrease in this enzyme can cause a build-up of acetylcholine at nerve endings that in turn can lead to overstimulation of nerves in the body tissues.Serum butyrylcholinesterase is the enzyme usually measured by the laboratory. This is because the enzyme can be used as a marker for the ineffective metabolism of the muscle relaxant suxamethonium used in surgery as well as exposure to organic phosphorus insecticides.The laboratory measures the total activity of cholinesterase in the patient’s blood. This is useful because if the activity is low it suggests an atypical enzyme variant is present and that the patient is at risk of prolonged effects from the muscle relaxants suxamethonium or mivacurium. Also, low total enzyme activity in people working with organophosphorus compounds on farms or in the chemical industry may indicate acute exposure.Inhibitor studies are also carried out to determine the patient’s phenotype which can be used to find out whether the enzyme is ‘usual’ or ‘atypical’ , provide more information about any potential risk and assist in family studies. In order to identify the cholinesterase phenotype the enzyme is incubated with a range of inhibitors which include dibucaine, fluoride and frequently Ro 02-0683, chloride and sometimes scoline. The percentage of the enzyme activity remaining is referred to as a ‘number’ and is used to assess the phenotype. In this way the laboratory can discover whether the patient has a usual (normal) or an atypical enzyme. The enzyme phenotype can be further classified into a number of possible variants with varying degrees of possible sensitivity to suxamethonium or mivacurium.Genetic studies can also be indicated if an ‘atypical’ variant is difficult for the laboratory to identify or if a silent S gene is suspected. These tests are not as widely available as phenotype studies at present.


Why:
screen for a rare mutation in the PSEN1 gene known to be associated with Early Onset Familial Alzheimer’s Disease (EOFAD)

When:
you are an adult who has symptoms of dementia and a strong family history of early onset Alzheimer’s Disease (AD that begins before age 60-65) or if you are an adult with no symptoms but with an identified PSEN1 genetic mutation (and EOFAD) in your family

Test General info:
This test looks for mutations in the PSEN1 gene, which have been associated with Early Onset Familial Alzheimer’s Disease (EOFAD). Although most AD starts after the age of 65 (late onset), about 5-10% of cases of the disease begin in people under 65 years of age. Much of this early onset AD is inherited - it runs in families and is caused by a genetic mutation. There have been three genes identified so far that are associated with EOFAD; all are very rare - accounting for less than one in 1000 cases of Alzheimer`s disease. Of these, PSEN1 is the most common and is thought to cause about half the cases of EOFAD. Since PSEN1 is a dominant gene, it only takes one mutated copy, inherited from either your mother or father, to cause EOFAD. Why PSEN1 is associated with EOFAD is not yet known. It is thought that the normal role of the PSEN1 gene is to make the protein presenilin 1, a protein used in the development of the brain and spinal cord. It also works with other enzymes to cut certain proteins into smaller pieces (amyloid beta peptide). A mutation of PSEN1 produces an abnormal presenilin 1 protein that no longer functions properly, resulting in a breakdown of this process. This breakdown lends itself to increased production of the longer, stickier configuration of the amyloid beta protein, which is toxic to the nervous system and eventually forms the characteristic amyloid plaques of AD.. PSEN1 is a rare mutation. So far, about 40 mutations of the PSEN1 gene have been identified but only in about 50 different families worldwide.The PSEN1 genetic mutation analysis is new and not widely accepted yet. In its present form, it is only capable of identifying about 30-60% of patients who have EOFAD caused by a PSEN1 mutation. The analysis is made easier if a patient already has an identified PSEN1 mutation in their families.


Related Tests:
TB tests, AFB Smear and Culture, Body Fluid Analysis, Pleural Fluid Analysis

Why:
help detect or rule out a Mycobacterium tuberculosis infection in pleural fluid in order to assist in the diagnosis of tuberculosis; rarely to detect the infection in other body fluids such as peritoneal fluid or cerebrospinal fluid (CSF)

When:
en a doctor suspects that someone with chest pain, coughing, and/or difficulty breathing has tuberculosis that has spread from their lungs to the pleurae (lining around the lungs)

Sample Type:
volume of pleural fluid is collected by a doctor using a procedure called thoracentesis; other body fluids are collected using other procedures

Test General info:
Adenosine deaminase (ADA) is a protein that is produced by cells throughout the body and is associated with the activation of lymphocytes, a type of white blood cell that plays a role in the immune response to infections. Conditions that trigger the immune system, such as an infection by Mycobacterium tuberculosis, the bacteria that causes tuberculosis (TB), may cause increased amounts of ADA to be produced in the areas where the bacteria are present. This test measures the amount of adenosine deaminase present in pleural fluid in order to help diagnose a tuberculosis infection of the pleurae.Pleurae are membranes that cover the chest cavity and the outside of each lung. Small amounts of pleural fluid are continuously produced to lubricate the movement of the lungs against these membranes and the membranes against each other during inhalation and exhalation. A variety of conditions and diseases, including infection, can cause inflammation of the pleurae (pleurisy or pleuritis) and can lead to excessive pleural fluid accumulation (pleural effusion).Tuberculosis occurs most commonly in the lungs, and it can spread into the pleurae, causing symptoms such as chest pain, chronic cough, and shortness of breath. Since these symptoms may also be seen with a variety of other conditions, it is important to determine the cause as rapidly as possible in order to properly treat the affected person. Detecting mycobacteria in pleural fluid can be difficult because there may be a large volume of fluid and very low numbers of bacteria present. The ADA test is not as accurate as a culture for diagnosing TB, however results will be available much quicker so it can be used as an additional test to help determine whether tuberculosis is the likely source of a person`s symptoms.


Other Names:
Antidiuretic Hormone; Vasopressin; Arginine Vasopressin; AVP

Related Tests:
Osmolality, Creatinine, Sodium, Urea, Urinalysis

Why:
help detect, diagnose, and determine the cause of antidiuretic hormone (ADH) deficiency or excess. However, this test is not widely used; diagnoses of conditions of ADH excess/ deficiency are usually based on clinical history and other laboratory tests, s

When:
H may be requested if results of initial investigations of ADH deficiency/ excess are equivocal. However, ADH analysis is rarely required.

Test General info:
The ADH test measures the amount of antidiuretic hormone (ADH) in the blood. ADH, also called arginine vasopressin (AVP), is a hormone produced by the hypothalamus and stored in the posterior pituitary gland. Antidiuretic hormone helps regulate water balance in the body by controlling the amount of water the kidneys reabsorb.ADH is normally released by the pituitary in response to sensors that detect increases in blood osmolality or decreases in blood volume. The kidneys react to ADH by conserving water and producing urine that is more concentrated. The retained water dilutes the blood, lowers its osmolality, and increases blood volume and pressure. If this is not sufficient to restore the water balance, then thirst is also stimulated so that the affected person will drink more water.There are a variety of disorders, conditions, and medications that can affect either the amount of ADH released or the kidneys` sensitivity to it. ADH deficiency and excess can cause acute and chronic symptoms that, in rare cases, may become life-threatening. If there is too little ADH or the kidneys do not respond to ADH, then too much water is lost through the kidneys, the urine produced is more dilute than normal, and the blood becomes more concentrated. This can cause excessive thirst, frequent urination, dehydration, and high blood sodium (hypernatraemia). If there is too much ADH, then water is retained, blood volume increases, and the person may experience nausea, headaches, disorientation, lethargy, and hyponatraemia.The ADH test is not widely used to diagnose these conditions. Often, a diagnosis is made on the basis of clinical history and other laboratory tests such as urine and blood osmolality and electrolytes.ADH deficiency is called diabetes insipidus. There are two types of this disorder: central and nephrogenic. Central diabetes insipidus is associated with a lack of ADH production by the hypothalamus or release from the pituitary and may be due to a variety of causes, including an inherited genetic defect, head trauma, a brain tumour, or due to an infection that causes encephalitis or meningitis. Nephrogenic diabetes insipidus originates in the kidney and is associated with a lack of response to ADH, causing an inability to concentrate urine. It may be inherited or caused by a variety of kidney diseases. Both types of diabetes insipidus lead to the excretion of large quantities of dilute urine.Increased concentrations of ADH are often seen with ``syndromes of inappropriate antidiuretic hormone`` (SIADH). SIADH is characterised by production of too much ADH, resulting in water retention, hyponatraemia, and decreased blood osmolality. It may be due to a wide number of diseases and conditions that either i) stimulate excessive ADH secretion or ii) prevent its suppression. SIADH may also be seen with cancers that produce ADH or ADH-like substances independent of the hypothalamus and pituitary glands. Regardless of the cause or source, excessive ADH causes low blood sodium and osmolality because water is retained and blood volume is increased.


Other Names:
Dopamine; adrenaline (epinephrine); noradrenaline (norepinephrine); free urine catecholamines

Related Tests:
Plasma free metadrenalines; urine metadrenalines; fractionated urine metadrenalines

Why:
help diagnose or rule out a phaeochromocytoma or other neuroendocrine tumour

When:
you have symptoms of persistent or episodic high blood pressure such as severe headaches, rapid heart rate and sweating

Sample Type:
24-hour urine sample (collected into a bottle containing a small amount of acid) or possibly a blood sample taken from a vein in the armNote: These tests are affected by certain drugs, foods, and stresses. Inform your doctor of any medicines you are takin

Test General info:
Catecholamines are a group of similar hormones produced in the medulla (central portion) of the adrenal glands. The adrenal glands are small, triangular organs which sit on top of each kidney. The main catecholamines are dopamine, adrenaline (epinephrine), and noradrenaline (norepinephrine). These hormones are released into the bloodstream in response to physical or emotional stress. They help transmit nerve impulses in the brain, increase the release of glucose and fatty acid into the blood (for energy), widen the small air passages in the lungs, and widen (dilate) the pupils of the eye. Noradrenaline also reduces the size blood vessels (increasing blood pressure) and adrenaline increases heart rate and metabolism.After completing their actions, the hormones are metabolised to form inactive compounds. Dopamine becomes 3-methoxytyramine (3-MT) and homovanillic acid (HVA), noradrenaline changes to normetanephrine and hydroxymethylmandelic acid (HMMA) (also called vanillylmandelic acid (VMA)), and adrenaline becomes metanephrine and HMMA. Both the hormones and their breakdown products (metabolites) are removed in the urine.Normally, catecholamines and their metabolites are present in the body in small, varying amounts that only increase greatly during and shortly after a period of stress. Phaeochromocytomas and other neuroendocrine tumours, however, can produce large amounts of catecholamines, resulting in greatly increased levels of the hormones and their metabolites in both the blood and urine. This can cause persistent high blood pressure and/or bouts or episodes of very high blood pressure, resulting in severe headaches, palpitations, sweating, sickness, anxiety, and tingling in the fingers and toes.About 80-85% of phaeochromocytomas are found in the adrenal glands. While a few are cancerous, most are benign meaning that they do not spread beyond their original location, although most do continue to grow. Left untreated, the symptoms may get worse as the tumour grows and, over a period of time, the high blood pressure that the phaeochromocytoma causes may damage body organs, such as the kidneys and heart, and increase the risk of a stroke or heart attack.Urine and plasma catecholamine and catecholamine metabolite testing can be used to help detect the presence of phaeochromocytomas. It is important to diagnose and treat these rare tumours because they cause a potentially curable form of high blood pressure.  Phaeochromocytomas are responsible for high blood pressure in a very small proportion of individuals (approximately 0.1-0.6%). In most cases, the tumours can be surgically removed and/or treated to reduce the amount of catecholamines being produced and to reduce or remove symptoms and complications.Catecholamine testing measures the amount of adrenaline, noradrenaline, and dopamine in the plasma or urine. Increasingly laboratories are measuring the catecholamine metabolites, metanephrine and normetanephrine in urine or plasma as well, as recent evidence suggests they are more reliable tests because they are continually produced by the tumor.The plasma catecholamine test measures the amount of hormones present at the moment of collection, while the urine test measures the amount excreted over a 24-hour period.


Related Tests:
Gram stain; Susceptibility testing; Blood culture; Urine culture; AFB smear and culture; Fungal culture; MRSA screening

Why:
detect a bacterial wound infection, to determine which specific bacteria are present, and to isolate and grow the bacteria for subsequent susceptibility testing

When:
en the doctor suspects that your wound is infected by a pathogenic microorganism

Sample Type:
ually a sterile swab used to collect cells or pus from the site of the suspected infection. Occasionally aspirations of fluid from deeper wounds into a syringe and/or a tissue biopsy may be required.

Test General info:
A bacterial wound culture is a test that is used to detect and identify pathogenic bacteria in a potentially infected wound. Wounds may be superficial breaks in the skin such as scrapes, cuts and scratches or may involve deeper tissues such as incisions, bites, punctures or burns. Any wound may become infected with a variety of bacteria. A culture helps to determine which type or types of bacteria are causing an infection, and which antibiotic would best treat the infection and help heal the wound.A culture is performed by collecting a sample of fluid, cells or tissue from the wound and placing it on or in appropriate nutrient media. The media encourages the growth of bacteria that may be present, allowing for further testing and identification. Typically if a person has a wound infection, there will either be a pure culture of the microorganism - only one kind will be found, or one type will predominate. In some cases, for instance with a human or animal bite, there may be several pathogens present. Since wounds may be superficial or involve deep tissue, they may harbour different types of bacteria that have different requirements for growth. Some bacteria infecting a wound may require air for growth (aerobic) while some require a no-oxygen or reduced-oxygen environment (anaerobic or microaerophilic). Care must be taken when handling the samples so that their growth is encouraged and the probability of their detection and identification are optimized.The next step in the process is to identify the different types of microorganisms present. Identification is a step-by-step process that may involve many tests and evaluations performed on the bacteria found growing in the culture. One such test, the Gram stain, involves smearing individual colony types onto glass slides and treating them with a special stain. Under the microscope, the bacteria can be classified into Gram-positive and Gram-negative organisms and by shape into cocci (spheres) or rods. With this information and additional biochemical tests, the types of bacteria present can be identified.For many of the pathogens identified in the wound culture, antimicrobial susceptibility testing is required to guide treatment and to determine whether the strain of bacteria present is likely to respond to specific antibiotics. In order to do this, a pure culture (isolate) of the identified bacteria must be available, which may require additional time in the laboratory to separate and identify each bacterial species.  The wound culture, Gram stain test, and susceptibility testing all contribute to inform the doctor which pathogen(s) are present and what antibiotic therapy is likely to inhibit their growth.


Why:
screen for and monitor therapy for certain cancers of the liver and testes

When:
your doctor suspects that you have certain cancers of the liver or testes, if you are under treatment for them, or have previously been treated for one of these cancers. It may also be used if chronic hepatitis or cirrhosis of the liver is suspected.

Test General info:
AFP is a protein that is normally produced by the developing fetus. However, it can also be produced by certain tumours and disease of the liver. Raised levels of AFP are found in the majority of patients with a type of liver cancer called hepatocellular carcinoma and also in some patients with cancer of the testis.


Formal Name:
Human immunodeficiency virus (HIV) antibody test

Related Tests:
p24 antigen test; HIV resistance testing; HIV viral load; CD4 and CD8 lymphocyte counts

Why:
determine if you are infected with human immunodeficiency virus (HIV)

When:
ree or four weeks after you think you may have been exposed to the virus; once a year if you are at risk of being exposed to the virus; when you doctor thinks your symptoms may be due to HIV; before becoming pregnant or during pregnancy

Sample Type:
blood sample collected from a vein in your arm; the test can also be performed on urine or saliva (spit)

Test General info:
Human immunodeficiency virus (HIV) causes AIDS (acquired immunodeficiency syndrome) by slowly destroying the over a period of years, leaving the body vulnerable to debilitating infections. This test detects HIV antibodies produced by the body that can be detected in the blood of many about 3–4 weeks after exposure to the virus and in the blood of nearly all individuals after 3 months.


Formal Name:
[Primary tests]; Delta-aminolaevulinic acid (ALA); porphobilinogen (PBG); porphyrins

Why:
help diagnose and sometimes to monitor porphyrias (a group of inherited disorders involving disturbance in the metabolism of haem, a component of haemoglobin)

When:
a patient has symptoms that suggest an acute porphyria (such as abdominal pain, tingling in hands or feet, and/or confusion or hallucinations) or a cutaneous porphyria (such as reddening, blistering, or scarring on sun-exposed skin)

Sample Type:
blood sample taken from a vein in your arm, a random urine sample, preferably collected whilst symptoms are occurring, and a small stool sample

Test General info:
Porphyrin tests are assays that are used to help diagnose, and monitor a group of disorders called porphyrias. Most porphyrin tests detect and measure by-products of the synthesis of haem, a part of haemoglobin (the protein inside red blood cells that allows them to transport oxygen) and a number of other proteins. The synthesis of haem is a step-by-step process that requires the sequential action of eight different enzymes. If there is a deficiency in one of these enzymes, a bottleneck forms and precursors build up in the body’s fluids and tissues and are removed in urine and faeces. Which precursors build up depends on where the bottleneck is.There are six major porphyrias, and each one is associated with a different enzyme deficiency. Most porphyrias are inherited in an autosomal dominant fashion, with one normal and one affected gene. This results in about a 50% reduction in the activity of the haem-related enzyme. Enough haem is synthesised to prevent the affected person from becoming anaemic, but a large excess of one or more precursors is produced.Porphyrias may be classified according to: 
   1. The affected enzyme 
   2. The part of the body where the excess porphyrins are produced:Hepatic - associated with the liverErythropoietic - associated with red blood cell productionor 
   3. Signs and symptoms of the disease (abdominal pain, neurological / psychiatric, skin, or both).Those porphyrias that cause neurological/psychiatric symptoms present with acute attacks that may last for days or weeks. They are associated with abdominal pain, sickness, constipation, depression, confusion, hallucinations, and fits. Attacks may be triggered by a variety of drugs (such as anticonvulsants, antibiotics, and hormones) and environmental factors (such as dietary changes, stress, and exposure to toxic substances).The cutaneous (skin) porphyrias are associated with photosensitivity. Sunlight exposure, even through a glass window, has a toxic effect on the patient’s skin. This may cause redness, swelling, and a burning sensation in some patients, while in others it leads to blistering, skin thickening, hyperpigmentation (darkening of the skin), and in some cases scarring.Acute porphyrias (neurological/psychiatric) include:Acute intermittent porphyria (AIP), the most common of the neurological porphyriasVariegate porphyria (VP), which includes both neurological symptoms and photosensitivityHereditary coproporphyria (HCP), which may present with neurological symptoms, photosensitivity, or bothCutaneous (skin) porphyrias include:Porphyria cutanea tarda (PCT), the most common porphyria; unlike the other porphyrias, most cases are due to an acquired enzyme deficiency which is triggered by liver dysfunction.Protoporphyria (also called erythropoietic protoporphyria), which typically begins in childhood or adolescence; sun-exposed skin turns red accompanied by burning and itching, but scarring is uncommon.Congenital erythropoietic porphyria (CEP), a very rare autosomal recessive disorder; over time, extreme photosensitivity leads to extensive and severe scarring of light-exposed areas.In rare cases, a patient may have two different porphyrias, or a homozygous deficiency of one enzyme that produces a more severe form of porphyria.Individual Tests
Clinical laboratories measure porphyrins and their precursors in urine, blood, and faeces. These tests are listed below:Porphobilinogen (PBG) in urine and, more rarely, delta-aminolaevulinic acid (ALA) in urinePorphyrins in urine, faeces, or blood Specialised laboratories may offer testing for one or more of the affected enzymes. The most commonly measured enzyme is porphobilinogen deaminase (PBG-D) in red blood cells, which tests for patients with acute intermittent porphyria. Specialised centres can offer genetic mutation analysis on patients with an unequivocal diagnosis of porphyria or patients who have a family member with a previous, confirmed diagnosis of porphyria.


Related Tests:
AST, ALP, GGT, bilirubin, liver function tests

When:
your doctor thinks that you have symptoms of a liver disorder

Test General info:
ALT is an enzyme found mostly in the liver; smaller amounts are also found in the kidneys, heart, and muscles. When the liver is damaged, ALT is released into the bloodstream, hence increasing the concentration that can be detected in a blood test. This often happens before more obvious symptoms of liver damage occur, such as jaundice (yellowing of the eyes and skin).


Related Tests:
Prealbumin, Microalbumin, Liver function tests

Why:
screen for liver or kidney disease especially in hospitalised patients

When:
your doctor thinks you have symptoms of liver or kidney disease or prior to a planned surgery

Test General info:
Albumin is the most abundant protein in the blood plasma. It keeps fluid from leaking out of blood vessels; nourishes tissues; and carries hormones, vitamins, drugs, and ions like calcium throughout the body. Albumin is made in the liver and its concentration in the blood is sensitive to liver damage. The concentration of albumin in the blood drops when the liver is damaged or with a type of kidney disease called `nephrotic syndrome if a person experiences severe inflammation in the body, or with shock. The albumin concentration in the blood increases when a person is dehydrated.


Related Tests:
Drugs of Abuse Screen; Full Blood Count (FBC); Glucose; Electrolytes; Emergency and Overdose Drug Testing

Why:
find out if a person has drunk alcohol and to measure the amount of alcohol present in the body

When:
en a patient has symptoms that suggest drunkenness or alcohol toxicity,  or when a person is suspected of breaking drinking-related laws or as part of a drug testing panel for pre-employment or other purposes.

Sample Type:
hanol (Ethyl alcohol) can be measured in a blood or urine sample, in breath or (rarely) in saliva. Blood, urine, and saliva samples must be sent to a laboratory for analysis. A breath sample is analysed immediately on site using a breath analyser (``breat

Test General info:
This test measures the amount of ethanol in the blood, urine, breath, or saliva. Ethanol (also called ethyl alcohol or alcohol) is the intoxicating ingredient in alcoholic beverages such as beer, wines and spirits. Small amounts of alcohol can cause excitement, relaxation, and decreased inhibition, but can also cause poor judgment and impaired eye-hand coordination; large amounts in a relatively short period of time can cause rapid alcohol poisoning with confusion, slow breathing, coma, and even death. Consumption of large quantities of alcohol over a long period of time can lead to alcoholism and to several medical problems such as permanent liver damage, cardiovascular problems, depression and anxiety.When alcohol is drunk, it is absorbed by the stomach and intestine, and carried throughout the body in the bloodstream. Small amounts of alcohol are removed by the kidney in urine or breathed out from the lungs, but most is broken down by the liver. Alcohol is poisonous to the liver. With the help of enzymes, the liver oxidizes the alcohol first to acetaldehyde, then to acetate, and then finally to carbon dioxide and water. The liver can process about one unit of alcohol an hour – with one unit of alcohol being defined in the UK as 10 mL pure alcohol, roughly equivalent to 250 mL (half a can) of beer, 80 mL (half a 175 mL glass) of wine, or a measure (25 mL) of whisky. A person who drinks more than 1 drink an hour is likely to build up alcohol in their blood stream.


Why:
see if your aldosterone or renin levels are abnormal; to detect hyperaldosteronism (overproduction of aldosterone) or hypoaldosteronism (underproduction of aldosterone)

When:
your doctor finds an electrolyte imbalance or you develop symptoms of hyperaldosteronism, such as high blood pressure or muscle weakness

Sample Type:
blood sample taken from a vein in your arm or a 24-hour urine sample

Test General info:
Aldosterone is a hormone which regulates the retention of sodium (salt) and water by the kidney and also regulates the removal of potassium. It plays an important role in the control of blood pressure.
Aldosterone is produced by the adrenal glands which are located at the top of each kidney. Its production is stimulated by a complex process that includes several other ``hormones``, the most important of these being renin and angiotensin II. Renin, produced by the kidney, stimulates production of angiotensin II in the bloodstream. Angiotensin II then regulates the release of aldosterone. Normally when renin increases, aldosterone increases; when renin is low, aldosterone decreases.


Related Tests:
AST; ALT; GGT; Bilirubin; Liver function tests; Bone markers

Why:
screen for or monitor treatment for a liver or bone disorder

When:
part of liver function tests or when a person has symptoms of a liver or bone disorder

Sample Type:
blood sample taken from a vein in the arm

Test General info:
Alkaline phosphatase is an enzyme found in high levels in bone and liver. Smaller amounts of ALP are found in the placenta of women who are pregnant, and in the intestines. Each of these body parts makes different forms of ALP. The different forms are called isoenzymes.


Related Tests:
Total IgE, Full blood count (FBC), White blood cell differential count , Eosinophil count, Basophil count

When:
en you have symptoms such as hives, dermatitis, rhinitis (nasal blockage, sneezing), red itchy eyes, asthma, or severe reactions such as anaphylaxis that your doctor suspects may be caused by an allergy

Test General info:
Immunoglobulin E (IgE) is a protein involved with allergic reactions; it is normally found in very small amounts in the blood. IgE is an antibody that functions as part of the body`s immune system and helps to defend against ``intruders``. When someone with a predisposition to allergies is exposed to a potential allergen (such as food, grass or animal dander), they may become sensitized. Their body sees the potential allergen as a foreign substance and produces a specific IgE antibody that binds to mast cells which are specialized cells in your tissues and a type of white blood cell called basophils which are present in the blood. The mast cells are found in tissues throughout your body but have the highest in concentration in the skin, respiratory system, and gastrointestinal tract. At the time of the next exposure, these attached IgE antibodies recognize the allergen and cause the mast and basophil cells to release histamine and other chemicals which results in an allergic reaction that begins at the exposure site.  

The allergen-specific IgE antibody test is used to check for an allergy to a specific allergen. It measures the amount of IgE antibody in the blood for the suspected allergen(s). Each selection is one separate test, and the tests are very specific: honeybee versus bumblebee, egg white versus egg yolk, giant ragweed versus western ragweed. Groups of tests, such as food panels or regional weed, grass, and mould panels, can be measured or  you and your doctor can choose from a list of individual allergens which are suspected of causing your allergy. 

The allergen-specific IgE test can be done using a variety of methods. The traditional method is the RAST (radioallergosorbent test) but it has been largely replaced in most laboratories with the newer IgE-specific immunoassay method. Some doctors refer to all IgE allergy tests as RAST even though this is a specific methodology and may not be the exact method  that the testing lab is using.


Formal Name:
Antimitochondrial Antibody and Antimitochondrial M2 Antibody

Related Tests:
Antineutrophil cytoplasmic antibody (ANCA), Liver/Kidney microsomal antibody, Alkaline phosphatase (ALP), Alanine aminotransferase (ALT), Liver panel, Smooth muscle antibody (SMA), Antinuclear antibody (ANA)

Why:
help diagnose primary biliary cirrhosis (PBC)

When:
en a doctor suspects that a person may have primary biliary cirrhosis

Test General info:
This test measures whether antimitochondrial antibodies (AMA) are present in the blood. Moderate or high levels of AMA are strongly associated with primary biliary cirrhosis (PBC). PBC is an autoimmune disorder that causes inflammation and scarring of the bile ducts inside the liver, causing continual liver damage and blockage of the bile flow. It is found most frequently in women between the ages of 35 and 60. More than 90% of those affected by PBC will have high levels of antimitochondrial antibodies.Increased AMA levels are seen much less often in autoimmune hepatitis, sclerosing cholangitis,  liver disease due to chronic inflammatory bowel disease, and bile duct obstruction.There are nine types of AMA (M1 – M9) of which M2 and M9 are the most clinically valuable. The presence of the M2 type has been particularly evident in primary biliary cirrhosis, while the other antigen types may be found in other conditions.In some laboratories, if testing for AMA is positive, then further tests for the M2 subtype is performed. Some laboratories have started to offer the AMA-M2 test instead of the AMA, and this tests for all types together.


Other Names:
AMH; Mullerian-inhibiting hormone; MIH; Mullerian inhibiting factor; MIF; Mullerian-inhibiting substance; MIS

Related Tests:
FSH, LH, Oestrogen, Testosterone, Progesterone, 17-Hydroxyprogesterone (17-OHP), Antral follicle count

Why:
the UK, measurement of anti-Müllerian hormone (AMH) has three generally accepted uses (based on published evidence):To help guide treatment of women undergoing assisted conception procedures.As part of an investigation of abnormal sexual development in ba

When:
me women are tested when they are referred for assisted conception procedures e.g. in vitro fertilisation (IVF). The result can help the doctor to provide appropriate treatment which is individualised to the patients needs. As part of an extended newborn screen, when an infant has ambiguous genitalia (i.e. it is not clear whether the baby is a boy or a girl). AMH may be tested to monitor the response to treatment and tumour recurrence in women with an AMH-secreting ovarian tumour.

Sample Type:
blood sample taken from the vein in your arm or from a heal prick in an infant

Test General info:
The test measures a hormone called anti – Müllerian hormone (AMH). This hormone is very important during the development of the male foetus as it is essential for the formation of male reproductive organs. In males, AMH is generated within cells in the testes. AMH is detectable at birth in males and levels rise rapidly in infancy. After puberty, the levels of AMH decline in men. In females, small amounts of AMH are produced by developing follicles in the ovaries. At birth and in childhood the level of AMH in girls is very low, but increases significantly at puberty reaching a peak in early adulthood. As women age, the number of follicles (which produce AMH) decreases and so the level of AMH declines and becomes undetectable after the menopause. AMH levels in women therefore reflect the declining ovarian function, and its measurement is said to indicate “ovarian reserve”.


Test Name:
Aminophylline, Nuelin, Phyllocontin, Slo-Phyllin, Uniphyllin

Other Names:
Aminophylline, Nuelin, Phyllocontin, Slo-Phyllin, Uniphyllin

Related Tests:
Therapeutic Drug Monitoring; Emergency and Overdose Drug Testing

Why:
measure the amount of theophylline or caffeine in the blood, to establish an appropriate dose and to maintain an appropriate level

When:
the start of drug therapy and at regular intervals to monitor the drug’s levels; when indicated, to detect low or possible toxic concentrations

Sample Type:
blood sample taken from a vein in your arm or from pricking an infant’s heel

Test General info:
Theophylline and caffeine are methylxanthines – drugs that ease and stimulate breathing. These tests measure the amount of theophylline or caffeine in the blood to help establish an appropriate dose and maintain the right level. Theophylline is one of several medicines that may be taken by children and adults who have asthma and by adults who have chronic obstructive pulmonary disease (COPD). It is a bronchodilator with a narrow therapeutic window – too little theophylline will not work and too much can cause toxicity. Chronic theophylline toxicity is associated with an increased risk of seizures. Both short and long term toxicity can be life-threatening.Theophylline may also be prescribed to treat apnoea in premature babies, but caffeine citrate is the preferred medicine. Apnoea reduces the amount of oxygen available to the body. It is a common and serious condition in premature babies that must be promptly treated and closely monitored. While both theophylline and caffeine can reduce episodes of apnoea, caffeine has fewer side effects and, thus, a lower risk of toxicity. At very high doses, symptoms similar to those found with theophylline toxicity may be seen.Establishing and maintaining therapeutic doses can be a challenge. Both theophylline and caffeine levels may need to be monitored because the range of concentrations in which the drugs are effective, but not toxic, is narrow and in some cases the dose given does not correlate well with concentrations in the blood. The rate at which the drugs are metabolized will vary from person to person and is decreased in both the very young and the elderly. The drug levels may also be affected by other conditions such as liver disease, hypothyroidism, and by short term infections or illnesses. Many drugs interact and interfere with the metabolism of theophylline. They may increase or decrease its rate of metabolism.


Why:
detect elevated concentrations of ammonia in the blood, to help diagnose severe liver disease and certain genetic urea cycle disorders, to investigate changes in consciousness, or to help diagnose hepatic encephalopathy and Reye’s syndrome

When:
a patient experiences mental changes or lapses into a coma of unknown origin; if an infant or child experiences frequent vomiting and increased lethargy as a newborn or about a week after a viral illness

Sample Type:
blood sample taken from a vein or artery in your arm

Test General info:
This test measures the concentration of ammonia in the blood. Ammonia is a chemical produced by bacteria in the intestine and by cells in the body during the processing of proteins.  Ammonia is a poisonous waste product which is normally transported to the liver, and then converted into two chemicals called urea and glutamine. The urea is then carried by the blood to the kidneys, where it is excreted in the urine. If this does not work correctly, ammonia can build up in the blood and pass into the brain.Accumulation of ammonia and other compounds normally broken down by the liver can cause a condition affecting the brain called hepatic encephalopathy. This causes symptoms such as confusion, disorientation, drowsiness, and eventually coma and even death. Infants and children with increased blood ammonia concentrations may vomit frequently, be irritable, and be increasingly tired. If left untreated, they may develop seizures, breathing difficulty, and fall into a coma.Problems with ammonia processing can arise for several reasons, including:Rare inherited defects in the urea cycle - a deficiency or inborn genetic defect affecting one or more of the enzymes necessary to complete the conversion of ammonia to urea. Severe liver disease - damage which reduces the ability of the liver to breakdown and remove ammonia. Sudden increases in blood ammonia concentration may be seen in patients with stable liver disease, especially following an event such as a bleed into the stomach or elsewhere in the intestine or an imbalance in sodium or other electrolytes.Decreased blood flow to the liver such that ammonia is less able to be removed. Reye’s syndrome - a rapidly developing condition that affects the blood, brain, and liver. It typically produces a rise in ammonia and a fall in glucose and affects children and young adults. In most cases, it follows and appears to be triggered by a viral infection. Children who use aspirin are at an increased risk. Kidney failure - the kidneys are unable to effectively remove the body’s urea, leading to a build-up of ammonia in the blood.


Other Names:
Amniocentesis; Foetal Lung Maturity Tests

Related Tests:
Triple/Quad Screen; Maternal AFP (alpha-fetoprotein); Blood Typing; Bilirubin; First Trimester Down Syndrome Screen; Chorionic Villus Sampling; fFN (Foetal fibronectin); Chromosome Analysis

Why:
detect and diagnose some birth defects, genetic diseases, and chromosome abnormalities in a foetus, especially if pregnancy screening tests are abnormal; to help diagnose and monitor haemolytic disease in a foetus

When:
tween 15 and 20 weeks of gestation to test for genetic diseases, chromosome abnormalities, and open neural tube defects; when it is suspected that a foetus has haemolytic disease, about every 14 days

Sample Type:
sample of amniotic fluid is obtained using a procedure called amniocentesis

Test General info:
Amniotic fluid surrounds, protects, and nourishes a growing foetus during pregnancy. It allows the baby to move relatively freely, keeps the umbilical cord from being compressed, and helps maintain a stable temperature. Contained within the amniotic sac, amniotic fluid is normally a clear to pale yellow liquid that contains proteins, nutrients, hormones, and antibodies. Amniotic fluid begins forming one to two weeks after conception and increases in volume until there is about 2 pints or 1 litre at 36 weeks of pregnancy. The fluid is absorbed and continually renewed.The foetus swallows and inhales amniotic fluid and releases urine into it. Cells from various parts of the foetus`s body and chemicals produced by the foetus are present in the amniotic fluid. This allows the fluid to be sampled and tested to evaluate foetal health.Amniotic fluid analysis encompasses a range of tests that can be performed to evaluate the health of a foetus. The tests are performed on a sample of amniotic fluid that is obtained through a procedure called amniocentesis. These tests may be performed on samples obtained between 15 and 20 weeks of pregnancy to test for some genetic diseases, chromosome abnormalities such as Down’s syndrome, and neural tube defects. It may also be done when it is suspected that a foetus has a blood type incompatibility with the mother and is at risk for developing haemolytic disease.For genetic testing and chromosome analysis, foetal cells in the amniotic fluid are cultured and grown for several days in the laboratory, then are analysed. Biochemical tests, such as bilirubin and alpha-fetoprotein, and sometimes genetic tests can be performed directly on the amniotic fluid.


Why:
diagnose pancreatitis or other pancreatic diseases

When:
you have symptoms of a pancreatic disorder, such as severe abdominal pain, fever, loss of appetite or nausea

Test General info:
Amylase is an enzyme made mainly by the pancreas. It is released from the pancreas into the digestive tract to help digest starch in our food. It is usually present in the blood in small quantities. When cells in the pancreas are injured or if the pancreatic duct is blocked (by a gallstone or rarely by a tumour) increased amounts of amylase find their way into the bloodstream.


Other Names:
Fluorescent antinuclear antibody (FANA), ANA ELISA

Related Tests:
Anti-dsDNA antibodies, anti-Sm antibodies, Sjögren`s syndrome antigen (SSA, SSB); Scl-70 antibodies; anti-centromere antibodies; anti-histone antibodies; anti-RNP antibodies, PM-Scl, Anti-Jo-1 antibodies, Anti-PL-7, PL12, Anti SRP

Why:
help diagnose systemic lupus erythematosus (SLE), drug induces SLE-like syndrome, Sjogren`s syndrome, scleroderma and  certain other autoimmune connective tissue diseases.

When:
your doctor thinks that you have symptoms of SLE, drug-induced lupus, Sjogren`s syndrome, scleroderma or another autoimmune connective tissue disease

Test General info:
The ANA test identifies the presence of antinuclear antibodies (ANA) in blood. These antibodies are produced by the body`s immune system – the body`s defence system against invasion by foreign substances such as viruses and bacteria. Sometimes the immune system malfunctions and produces substances that attack your body`s own cells and tissues instead of foreign substances. When this happens, the resulting disease is termed an autoimmune disease . The presence of ANA is associated with several autoimmune diseases but is most commonly seen in systemic lupus erythematosus (SLE).


Other Names:
Citrulline antibody; Anti-citrulline antibody; anti-cyclic citrullinated peptide antibody; anti-CCP

Why:
help in the diagnosis of rheumatoid arthritis (RA) and differentiate it from other types of arthritis; sometimes to help evaluate the prognosis of a patient with RA

When:
a patient has joint inflammation and/or undiagnosed or undifferentiated inflammatory polyarthritis (symptoms may suggest but do not yet meet the criteria of RA) and the doctor suspects RA

Test General info:
The cyclic citrullinated peptide antibody (CCP) test is a relatively new assay that detects the presence of anti-citrulline antibodies in the blood. Citrulline is an unusual amino acid (protein building block), which is created when the amino acid arginine is altered. There is speculation that conversion of arginine to citrulline resulting in “citrullinated” proteins in the lining of joints, may be the target of anti-CCP antibodies in RA, which may contribute to inflammatory process in RA.


Sample Type:
A blood sample taken from a vein in your arm
The Test Sample

Related Diseases:
Conditions: Rheumatoid Arthritis, Autoimmune Disorders


Other Names:
Antibody to ds-DNA; Native double-stranded DNA antibody; anti-DNA; Double stranded DNA antibody

Related Tests:
ANA, ENA Panel, Anti-Sm, Anti-RNP, Anti-Ro (SSA), Anti-La (SSB), Autoantibodies

Why:
help diagnose and monitor systemic lupus erythematosus (SLE)

When:
en you have symptoms associated with SLE and a positive ANA test; periodically when you have been diagnosed with SLE

Test General info:
This test measures the amount of antibody to double-stranded deoxyribonucleic acid (anti-dsDNA) that may be present in the blood. Anti-dsDNA is an autoantibody, produced when a person`s immune system fails to distinguish between ``self`` and ``non-self`` cellular components. It mistakenly targets and attacks the body`s own genetic material, causing inflammation, tissue damage, and other signs and symptoms that are associated with an autoimmune disorder.Anti-dsDNA is one of several antinuclear antibodies (ANA), a group of antibodies directed against substances found in the nucleus of cells. While it may be present at a low level with a number of disorders, anti-dsDNA is primarily associated with the autoimmune disorder systemic lupus erythematosus (SLE or Lupus). SLE can affect the kidneys, joints, blood vessels, skin, heart, lungs, and the brain. Symptoms may include joint pain, rashes, fatigue, and kidney dysfunction. SLE occurs most frequently in women between the ages of 15 to 40 and is more common in non-Caucasians. While no direct cause is known, there may be some genetic predisposition. Certain drugs, chemicals, sunlight, or viral infections may trigger an episode.One particularly serious complication of SLE is lupus nephritis, a condition characterised by inflammation of the kidneys, which can lead to protein in the urine, high blood pressure, and kidney failure. It occurs when the autoantibodies bind to antigens and become deposited in the kidneys. In the evaluation of someone with lupus nephritis, a high titre of anti-dsDNA is generally associated with ongoing inflammation and damage to the kidneys.


Related Tests:
Hepatitis B antibodies; hepatitis C antibodies, liver function tests

Why:
diagnose an infection with hepatitis A virus, or to find out the need for or the response to hepatitis A vaccination

When:
you have symptoms of an infection with or have been exposed to the hepatitis A virus; to detect previous infection or vaccination

Test General info:
Hepatitis A antibodies are produced in response to an infection with the hepatitis A virus. The test detects the presence of this antibody.


Other Names:
HBV; Hep B; Hepatitis B; anti-HBs; Hepatitis B surface antibody; HBsAg; Hepatitis B surface antigen; HBeAg; Hepatitis B e-antigen; Anti-Hbe; Hepatitis e antibody; anti-HBc; Hepatitis B total core antibody; anti-HBc IgM; Hepatitis B core IgM; HBV DNA

Related Tests:
Hepatitis A; hepatitis C; acute/chronic hepatitis panel; bilirubin; AST; ALT; GGT

Why:
detect, diagnose and follow the course of an infection with hepatitis B virus (HBV) or to determine if the vaccine against hepatitis B has produced the desired level of immunity

When:
you have symptoms of a hepatitis B infection or are likely to have been exposed to the virus; if you have chronic liver disease (possibly due to some other cause), if you have received the vaccine, if you were born to a mother who was HBV positive or if you are being treated for HBV

Test General info:
Hepatitis B is a liver infection caused by the hepatitis B virus (HBV). It is one of several various causes of hepatitis, a condition characteriszed by inflammation and enlargement of the liver. Other causes of hepatitis include, for example, certain drugs, inherited disorders, and autoimmune diseases. HBV is one of five ``hepatitis viruses`` identified so far. The other four are A, C, D, and E. The course of HBV infections can vary from a mild form (acute) that lasts only a few weeks to a more serious, chronic, form lasting years. Sometimes chronic HBV leads to serious complications such as cirrhosis or liver cancer. HBV is spread through contact with blood or other body fluids from an infected person. Exposure can occur, for example, through sharing of needles for IV drug use or through unprotected sex. People who live in or travel to areas of the world where hepatitis B is prevalent are at a greater risk. Mothers can pass the infection to their babies, usually during or after birth. The virus, however, is not spread through food or water, casual contact such as holding hands, or coughing or sneezing. Some of the various stages or forms of hepatitis B include:Acute infection - presence of typical signs and symptoms with positive screening testChronic infection — persistent infection with the virus detected by laboratory tests accompanied by inflammation of the liverCarrier (inactive) state — persistent infection but no liver inflammation (a carrier is someone who may appear to be in good health but harbours the virus and can potentially infect others)``Cleared`` infection — no longer any evidence of infection; viral antigen and DNA tests are negative and no signs or symptoms of liver inflammation (although, in many cases, the virus is present in an inactive state in the liver)There are several different tests that can be used to detect current or previous HBV infection. Some of the tests detect antibodies produced in response to exposure to the HBV; some detect viral antigens (part of the virus itself) while others detect viral DNA. They can be used to screen for infection in the absence of symptoms, to determine whether infection is acute or chronic, or to monitor a chronic infection.


Other Names:
Thyroid autoantibodies; Anti-thyroid antibodies; Anti-microsomal antibody; Thyroid microsomal antibody; Thyroid peroxidase antibody; TPOAb; Anti-TPO; TBII; Antithyroglobulin antibody; TgAb; TSH receptor antibody; TRAb; Thyroid stimulating immunoglobulin;

Formal Name:
Thyroid peroxidase antibody (TPOAb); Thyroglobulin antibody (TgAb); Thyroid stimulating hormone receptor antibody (TRAb)

Why:
help diagnose and monitor autoimmune thyroid diseases and to distinguish these from other forms of thyroiditis, and thyroid disease; to help guide treatment decisions

When:
you have an enlarged thyroid gland (goitre) and/or if your other thyroid tests (such as Free T3, Free T4, and TSH) indicate thyroid dysfunction; if there are clinical features to suggest thyroid disease; in some patients with related autoimmune diseases

Test General info:
These tests detect the presence and measure the quantity of specific thyroid autoantibodies. These develop when a person’s immune system mistakenly recognizes components of the thyroid as foreign (not-self) and can lead to chronic thyroiditis (inflammation of the thyroid), tissue damage, and disruption of thyroid function. The thyroid is a small, butterfly-shaped gland that lies flat against the windpipe in the throat. The primary hormones that it produces (thyroxine (T4) and triiodothyronine (T3)) are vital in helping to regulate the rate at which we use energy. The body has a feedback system that utilises thyroid stimulating hormone (TSH) to help turn thyroid hormone production on and off and maintain a stable amount of the thyroid hormones in the bloodstream. When thyroid antibodies interfere with this process, it can lead to chronic conditions and disorders associated with hypothyroidism (not enough thyroid hormones) or hyperthyroidism (excessive amounts of thyroid hormones). Hypothyroidism can cause symptoms such as weight gain, fatigue, goitre (enlarged thyroid gland), dry skin, hair loss, intolerance to cold, and constipation. Hyperthyroidism can cause symptoms such as sweating, rapid heart rate, anxiety, tremors, fatigue, difficulty sleeping, sudden weight loss, and protruding eyes.


Related Tests:
Antinuclear antibody (ANA); Aspartate aminotransferase (AST); Bilirubin; Antimitochondrial antibody (AMA); F-Actin Antibody; Anti-cytoskeleton antibodies (ACTA)

Why:
help diagnose autoimmune hepatitis and distinguish it from other causes of liver injury

When:
en a patient has hepatitis that the doctor suspects may be due to an autoimmune-related process

Test General info:
This test looks for the presence (and if present the level) of smooth muscle antibodies (SMA) in the blood. Antibodies usually protect the body against infecting organisms such as  bacteria and viruses. However, antibodies which are produced against parts of the body rather than outside organisms are known as autoantibodies and can cause disease rather the protect against it. SMA are autoantibodies produced by the body’s immune system that are directed against proteins of the smooth muscle. These ‘cytoskeletal’ proteins form a framework within a cell and support its structure. Smooth muscle differs from skeletal muscle we use for walking, lifting, and other movements e.g. biceps, triceps muscles. Smooth muscle is present in the walls of blood vessels, the bowel and bladder, amongst other locations. F-actin is a specific cytoskeleton protein which SMA may target. Testing for autoantibodies to F-actin is performed in some laboratories. It is thought that its performance is similar, or possibly better, than SMA itself. The clinical utility of the anti-actin test has yet to be established, and it is not widely used in the UK.The presence of SMA is strongly associated with autoimmune hepatitis (more specifically type 1 autoimmune hepatistis). It may also be seen much less commonly in other forms of liver disease such as primary biliary cirrhosis, and in viral infections. Usually higher levels of SMA are seen in autoimmune hepatitis compared with other causes.Autoimmune hepatitis is an acute or chronic inflammation of the liver caused by the immune system mistakenly attacking the cells of the liver. It is not the direct result of other causes such as a  viral infection, drug, toxin, hereditary disorder, or alcohol abuse. It can lead to liver cirrhosis and, in some cases, to liver failure.Autoimmune hepatitis can be found in anyone at any age, but about 80% of those affected are women.


Other Names:
Anti-Xa; Xa inhibition; Antifactor Xa heparin; Heparin level

Why:
monitor low molecular weight heparin (LWMH) therapy and sometimes to monitor unfractionated heparin (UFH) therapy

When:
en you are being treated with LMWH or UFH and your doctor wants to monitor the amount of heparin in your blood

Test General info:
This test measures the effect of low molecular weight heparin (LMWH) or unfractionated heparin (UFH) in the blood by measuring anti-Xa activity. Heparin is an anticoagulant, a drug that inhibits blood clotting. Heparin molecules vary in size and activity. UFH includes a broad range of sizes, while LMWH consists of a narrower range of smaller heparin molecules. There are several types of LMWH available and each one is slightly different. Both UFH and LMWH are given intravenously (I.V.) or through a subcutaneous injection to people who have inappropriate blood clots (thrombi) and/or are at an increased risk of developing them.Blood clotting is a normal response to blood vessel or tissue injury. It is a process that involves the initiation of the coagulation cascade - a sequential activation of coagulation factors, proteins that regulate blood clot development. A variety of acute and chronic conditions including surgery, pregnancy and some oral contraceptives, serious illnesses where patients are bed-bound and other hypercoagulable disorders are associated with inappropriate blood clot (thrombus) formation in veins – especially in the legs. These clots can obstruct blood flow and cause tissue damage in the affected area. Pieces of the blood clot can break off and travel to the lungs - causing pulmonary embolism. In pregnant women, blood clot formation can sometimes affect blood flow to the fetus and result in miscarriages or other complications of pregnancy.Heparin can also inhibit blood clot formation in diseased arteries, which sometimes cause heart attacks or strokes.Heparin, through its action on the protein antithrombin, interferes with the clotting process by accelerating the inhibition of coagulation factors, particularly factors Xa and IIa (thrombin). UFH affects both Xa and IIa, is more variable in its inhibitory activity, and must be closely monitored. Complications may include clotting, excessive bleeding, and sometimes a serious complication called “HIT” (Heparin Induced Thrombocytopenia) where platelets in the blood clump together and block the circulation. UFH is usually given in a hospital setting and monitored with the activated partial thromboplastin time (PTT) test, but it may also be monitored with the anti-Xa test. High doses of UFH given during surgery such as cardiopulmonary bypass are monitored using the activated clotting time (ACT) test. LMWH has more anti-Xa than anti-IIa activity and the response to it is more predictable. It may be given in either an outpatient or hospital setting. Routine monitoring of LMWH is seldom required but when it is monitored, the anti-Xa test is used.


Formal Name:
Cardiolipin Antibodies, IgG, IgM, and IgA

Related Tests:
Antiphospholipid Antibodies;  Anti-beta2 glycoprotein I;  Anti-phosphatidylserine;  Lupus Anticoagulant Panel

Why:
help investigate unexplained blood clot formation, to help determine the cause of recurrent miscarriage, or as part of an evaluation for antiphospholipid syndrome

When:
en you have had one or more unexplained venous or arterial thrombotic episodes; when you have had recurrent miscarriages, especially in the 2nd and 3rd trimesters

Test General info:
These tests detect the presence of three classes (IgG, IgM, and/or IgA) of cardiolipin antibodies. Produced by the immune system in response to a perceived threat, these proteins are the most common antiphospholipid antibodies. They are acquired  autoantibodies that can affect the body’s ability to regulate blood clotting.Cardiolipins, and other related phospholipids, are lipid molecules normally found in cell membranes and platelets. They play an important role in the blood clotting process. When antibodies are produced against cardiolipins, they increase the risk of developing recurrent blood clots (thrombi) in arteries and veins. Cardiolipin antibodies are also associated with  thrombocytopenia, recurrent miscarriages .(especially in the 2nd and 3rd trimester), and with premature labour and  pre-eclampsia.Cardiolipin antibodies are frequently seen with autoimmune disorders, such as Systemic Lupus Erythematosus (SLE), and with other antiphospholipid antibodies, such as lupus anticoagulant. They may also occur temporarily in patients with acute infections, HIV/AIDS, some cancers, with drug treatments (such as phenytoin, penicillin, and procainamide), and asymptomatically in the elderly.When a patient has thrombi formation, recurrent miscarriages, thrombocytopenia, cardiolipin antibodies, and/or another antiphospholipid antibody, they may be diagnosed with Antiphospholipid Syndrome (APS). APS can be primary with no underlying autoimmune disorder, or secondary, existing with a diagnosed autoimmune disorder.


Test Name:
Antimitochondrial Antibody and Antimitochondrial M2 Antibody


Related Tests:
HDL, LDL, Lipid Profile, Cholesterol, Apo B

Why:
determine whether or not you have adequate levels of apo A-I, to diagnose people with specific apo A deficiency and to help determine your risk of developing coronary heart disease (CHD)

When:
is is a not a routinely performed test and is currently limited to hospital specialists, and specialist testing laboratories. It can be measured when you have hyperlipidaemia and/or a family history of CHD or peripheral vascular disease; when your doctor is trying to assess your risk of developing heart disease; when apo A deficiency is suspected and when you are monitoring the effectiveness of lipid treatment and/or lifestyle changes.

Sample Type:
ually, a blood sample taken from a vein in your arm

Test General info:
Apolipoproteins are the protein component of lipoproteins - complexes that transport lipids throughout the bloodstream. Apolipoproteins provide structural integrity to lipoproteins and shield the hydrophobic (water repellent) lipids at their centre.Most lipoproteins are cholesterol- or triglyceride-rich and carry lipids throughout the body, for uptake by cells. High-density lipoprotein (HDL - the ``good`` cholesterol), however, is like an empty taxi. It goes out to the tissues and picks up excess cholesterol, then transports it back to the liver. In the liver the cholesterol is either recycled for future use or excreted into bile. HDL`s reverse transport is the only way that cells can get rid of excess cholesterol. It helps protect the arteries and if there is enough HDL present, it can even reverse the build up of fatty plaques in the arteries (deposits that lead to atherosclerosis and coronary artery disease).Apolipoprotein A is the taxi driver. It activates the enzymes that load cholesterol from the tissues into HDL and allows HDL to be recognised and bound by receptors in the liver at the end of the transport. There are two forms of apolipoprotein A, apo A-I and apo A-II. Apo A-I is found in greater proportion than apo A-II (about 3 to 1). The concentration of apo A-I can be measured directly, unlike HDL, and tends to rise and fall with HDL levels. This has led some experts to think that apo A-I may be a better indicator of the risk of coronary artery disease from the build-up of atheroma than the HDL test, but this has yet to be proven definitively.Deficiencies in apo A-I appear to correlate well with an increased risk of developing CHD and peripheral vascular disease. The routine use of apo A-I is however not currently accepted as standard care in this country.


Related Tests:
LDL, Lipid profile, Cholesterol, Apo A, HDL, Lp(a), hs-CRP, Homocysteine, Cardiac Risk Assessment, Apo B/Apo A-1 ratio

Why:
help evaluate your risk of developing cardiovascular disease (CVD) and to diagnose people with specific Apo B disorders.

When:
is is a non-standard test currently limited mostly to hospital specialists. It can be measured when you have a personal or family history of heart disease and/or high concentrations of lipids in the blood (hyperlipidaemia) and your doctor is trying to determine your risk of developing CVD; sometimes measured to help monitor treatment for hyperlipidaemia or to help diagnose a rare apo B deficiency

Test General info:
This test measures the amount of apolipoprotein B (apo B) in the blood. Apolipoproteins are the protein component of lipoproteins, complexes that transport lipids throughout the bloodstream. Apolipoproteins provide structural support to lipoproteins and shield the water-repellent (hydrophobic) lipids at their centre.There are two forms of apolipoprotein B: apo B-100 and apo B-48. Apo B-100 is made by the liver, while apo B-48 is produced in the intestines. Apo B-48 is an integral part of the structure of chylomicrons, large lipoproteins responsible for the initial transport of dietary lipids from the intestines to the liver. In the liver, the body repackages the lipids and combines them with apo B-100 to form triglyceride-rich very low density lipoprotein (VLDL). In the bloodstream, an enzyme called lipoprotein lipase (LPL) removes triglycerides from VLDL to create first, intermediate density lipoproteins (IDL) and then, low density lipoproteins (LDL - the ``bad`` cholesterol). Apo B-100 is recognised by receptors on the surface of many of the body`s cells which promote the uptake of cholesterol into the cells.The cholesterol that LDL and apo B-100 transport is a vital component of the membranes surrounding cells and for the production of several hormones. In excess, however, LDL can lead to the formation of fatty deposits (plaques) in artery walls and the hardening and scarring of blood vessels. These fatty deposits narrow the vessels in a process termed atherosclerosis which increases the risk of heart disease and a heart attack. The LDL cholesterol (LDL-C) test is routinely requested as part of a lipid profile. The value is frequently calculated by laboratories using the concentrations of total cholesterol, high density lipoprotein cholesterol (HDL-C) and triglyceride. The calculation becomes less reliable as the triglyceride concentration rises. Rarely laboratories will directly measure LDL-C concentration.Laboratory tests for apo B typically measure only apo B-100 but are often reported as simply apo B. Apo B-100 concentrations tend to mirror the concentration of LDL-C. Many experts think that in the future, the concentration of apo B may eventually prove to be a better indicator of risk of cardiovascular disease (CVD) than LDL-C. However, the clinical use of apo B and that of other emerging cardiac risk markers such as apo A-I, Lp(a), and hs-CRP is not fully established.


Related Tests:
Cardiac Risk Assessment, HDL Cholesterol, LDL Cholesterol, Lipid Profile, Triglycerides, Tau Protein

Why:
help confirm a diagnosis of Type III hyperlipoproteinaemia (also known as dysbetalipoproteinaemia, remnant disease or broad beta disease) and to evaluate a possible genetic cause of atherosclerosis. Outside of routine clinic practice e.g. for research pur

When:
is is a non-standard test currently limited mostly to hospital specialists. It can be measured if your doctor suspects that your high cholesterol and triglyceride concentrations may be due to a genetically inherited disorder, or if you have specific types of xanthomas (yellowish raised patches) on your skin (particularly palms, knees and elbows).

Test General info:
There are two methods to determine your apolipoprotein E (apo E) type. The test can look at a patient`s DNA to determine what combination of apo E gene alleles (copies) he or she has. The apo E gene exists in three different forms – e2, e3, and e4 – with e3 being the most common form and considered to be `neutral`. Everyone has a pair of apo E genes that is some combination of these three, for example e3/e3, e2/e2, e2/e4 etc.An alternative method is based on electrophoresis as the proteins have different charges. Due to analytical limitations and the presence of rarer types/mutations one test may find abnormalities that the other misses. aApo E is made in the liver and brain and helps transport lipids (fats) from one place to another thus helping to clear dietary fats, such as triglycerides, from the blood.The e2 form of apo E is less able to clear lipids from the blood compared to the other forms. This means that if someone has an e2/e2 combination, they may clear dietary fat from their body at a slower rate and be at a higher risk for early vascular disease because of the increased likelihood that the fats will be deposited in the blood vessel walls. It is not a straightforward diagnosis, however, as other factors, such as obesity, diabetes, and hypothyroidism, may play a role in whether a patient actually develops disease. The apo e4 allele has been shown to be associated with an increased risk of late onset Alzheimer`s Disease (developing after the age of 65). While one copy of e4 constitutes a risk (e2/e4 or e3/e4) and two copies of e4 (e4/e4) indicate a greater risk of developing AD, the actual amount of risk involved has not been fully established, likely varies between individuals and has no role in routine clinical testing.


Why:
determine if you have an imbalance in the amount of oxygen gas (O2) or carbon dioxide gas (CO2) in your blood or an acid-base imbalance (i.e. if your blood is too acidic/ alkaline), which may indicate a respiratory (lung/breathing), metabolic, or kidney d

When:
your doctor suspects that you have symptoms of an oxygen/carbon dioxide imbalance or an acid-base imbalance. These include difficulty breathing, shortness of breath, or rapid breathing (hyperventilation). You may also be tested to monitor the effectiveness of oxygen therapy (used when you have a condition that causes an oxygen shortage) and during operations to monitor your blood`s oxygen and carbon dioxide levels. If you have chronic obstructive pulmonary disease (COPD) this test may be used to assess if you need long term oxygen therapy.

Sample Type:
blood sample collected from an artery, usually the radial artery in the wrist (located on the inside of the wrist, below the thumb, where you can feel your pulse). A capillary blood from a heel-prick may be used for babies

Test General info:
Blood gas tests tell your doctor if you have enough oxygen in your blood and whether or not your blood pH is balanced - not too acidic (acidosis) or too alkaline/basic (alkalosis). Blood gas tests directly measure: pH – a measure of the level of hydrogen ion (H+), which indicates the acid/alkali status of your blood. The pH of your blood decreases (becomes more acidic) with increased amounts of CO2 and other acids, and the pH increases (blood becomes more alkaline) with decreased CO2 or increased amounts of bases like bicarbonate (HCO3-).PO2 – the partial pressure of O2; (the amount of oxygen gas dissolved in blood). Decreased PO2 may result in an elevated PCO2 and decreased pHPCO2 – the partial pressure of CO2 (the amount of carbon dioxide gas dissolved in the blood). As PCO2 levels rise, blood pH levels will decrease, becoming more acidic. As PCO2 decreases, pH levels will rise, making the blood more alkaline.Calculations or measurements also can be done to give other values, such as: O2 saturation – a calculation of how much oxygen is bound to haemoglobin in the red blood cells and available to be carried through the arteries to nourish the body’s cellsHCO3-; (bicarbonate) is excreted and reabsorbed by the kidneys in response to pH imbalances and is directly related to the pH level; as the amount of HCO3- rises, so does the pH


Other Names:
Aspartate aminotransferase; serum glutamic-oxaloacetic transaminase (SGOT)

Related Tests:
ALT; ALP; GGT; bilirubin; liver function tests

Test General info:
AST is an enzyme found mostly in the heart and liver and to a lesser extent in skeletal muscle. When heart, liver or muscle cells are injured, they release AST into the bloodstream.


Formal Name:
B1 (thiamine or thiamin); B2 (riboflavin); B3 (niacin); B5 (pantothenic acid); B6 (pyridoxal phosphate, pyridoxine); B7 (biotin)

Why:
screen for and detect moderate to severe vitamin B deficiencies

When:
en someone has symptoms that may be due to a B vitamin deficiency, is at risk for a deficiency, or has a condition associated with malabsorption

Sample Type:
blood sample taken from a vein in your arm.

Test General info:
The B vitamins are nutrients that the body requires in small amounts (micronutrients) for metabolism, energy production, and for cell, skin, bone, muscle, organ, and nervous system health. B vitamin tests measure these specific compounds in the blood to help evaluate a person`s nutritional status.B vitamins are absorbed from the diet, used as needed, and any excess is removed from the body through the urine. Because B vitamins are water-soluble, only small amounts are stored by the body and they must be obtained from foods rich in B vitamins or from supplements on a regular basis. Severe B vitamin deficiencies are rare in the United Kingdom but are still prevalent in areas of the world with dietary deficiencies.Deficiencies can occur when:There is an inadequate supply of B vitamins.Someone is unable to absorb or utilise one or more of the vitamins.A person eats foods that inhibit the action of a vitamin.A deficiency in another vitamin or mineral prevents its use.The need for the vitamin is increased.In the UK, deficiencies are primarily seen in those with general malnutrition, chronic alcoholism, in people with malabsorption or digestive disorders, as may be seen with gastric bypass surgery and coeliac disease, and in the elderly. They are also sometimes seen with other chronic diseases, with cancer and cancer treatment, with fad diets, and with prolonged diarrhoea. Pregnant women with a limited diet can be at an increased risk for B vitamin deficiencies and so can their babies. Rarely, a baby may have an inborn error of metabolism – a condition that prevents the proper use of a B vitamin.Symptoms associated with B vitamin deficiencies can be seen in characteristic groups but may also be nonspecific, especially with mild to moderate deficiencies. Since an affected person often has multiple vitamin deficiencies, they may also have multiple symptoms. Common deficiency symptoms include a rash, dermatitis, inflamed tongue, numbness, tingling or burning in the hands or feet, anaemia, fatigue, and mental changes.B vitamin toxicity rarely occurs, usually when someone ingests much more than the recommended dose of supplements. High concentrations of a few of the B vitamins may affect the liver or nervous system.See more detailed information on the B vitamins


Test Name:
B-cell Gene Clonality Molecular Genetic Tests

Other Names:
Immunoglobulin Gene Rearrangement; B-cell Gene Clonality Molecular Genetic Tests; BCGR

Related Tests:
Full Blood Count (FBC), White Blood Cell Differential, Blood Film, Immunophenotyping, Chromosome Analysis, Bone Marrow Aspiration and Biopsy, Quantitative Immunoglobulins, T-cell Receptor Gene Rearragement

Why:
help diagnose a B-cell lymphoma; to detect and evaluate residual cancer cells

When:
en a doctor thinks that you may have a B-cell lymphoma; sometimes to evaluate the effectiveness of treatment or to evaluate for recurrent disease

Sample Type:
bone marrow, tissue (biopsy), or body fluid sample collected by your doctor; sometimes a blood sample drawn from a vein in your arm

Test General info:
This test detects characteristic changes (rearrangements) in specific genes in B-cells. This information can be helpful in diagnosing a B-cell lymphoma.B-cells are a type of lymphocyte (a kind of white blood cell, WBC) that produces antibodies in response to infections or other ``foreign invaders.`` Rearrangements in certain parts of their DNA called immunoglobulin genes are a normal part of their development. These rearrangements are associated with the development of a large repertoire of diverse B-cells, allowing them to protect against many different kinds of infections. The final order in which the genes are rearranged is called a gene rearrangement profile. Within any normal population (sample) of B-cells, the cells and their gene rearrangement profiles are very diverse.In a lymphoma, the B-cells in affected tissue (such as blood, bone marrow or lymph node) are identical and their gene rearrangement profiles are likewise identical. Lymphomas arise when an abnormal B-cell begins to produce numerous identical copies of itself (clones). The cloned cells grow and divide uncontrollably, crowding out normal cells.A B-cell immunoglobulin gene rearrangement test evaluates the B-cells in a person`s sample to determine whether the majority of B-cell rearrangement profiles are diverse or identical. This information, along with clinical signs and symptoms and results of other laboratory tests, can help clarify a person`s diagnosis, or evaluate the persistence or recurrence of lymphoma.The majority of non-Hodgkin lymphomas are B-cell lymphomas.For additional details about B-cells and this testing, read more.


Other Names:
Brain natriuretic peptide, NT-proBNP, N terminal pro B type natriuretic peptide, natriuretic peptides

Why:
diagnose the presence and severity of heart failure

When:
you have symptoms of heart failure, such as breathlessness and fatigue, or if you are being treated for heart failure

Test General info:
This test measures the concentration of BNP or NTproBNP in the blood. NTproBNP is an inactive fragment produced at the same time as BNP. BNP is a hormone that helps to regulate blood volume. Both BNP and NT-proBNP are mainly produced by the heart`s left ventricle (the organ`s main pumping chamber). The heart releases more BNP and NT-proBNP when the left ventricle is stretched from having to work harder as can happen in heart failure (when your heart is not strong enough to pump enough oxygen-rich blood and nutrients to meet your body`s needs). BNP and NTproBNP levels increase in heart failure as well as in other diseases that affect the heart and circulatory system.


Why:
find out whether you have human leucocyte antigen B27 (HLA-B27) on the surface of your cells; to help assess whether you might have an autoimmune disorder associated with the presence of HLA-B27

When:
en you have symptoms of chronic inflammation, pain, and stiffness in certain areas of your body, such as your back, neck, and chest, or the interior portion of your eyes uveitis, especially if you are male and the symptoms began between late teens and your early 30s

Test General info:
HLA-B27 is a particular antigen found in certain people and the gene that codes for its production. It is one of many human leucocyte antigens (HLA). Human leucocyte antigens are a group of proteins that help the body`s immune system identify its own cells and distinguish between ``self`` and ``non-self.`` Everyone has an inherited combination of HLA genes that code for the antigens present on the surface of white blood cells (leucocytes) and other cells that contain a nucleus. While not as unique as a fingerprint, the presence or absence of each antigen creates a distinctive HLA combination for each person. This test determines the presence or absence of human leucocyte antigen B27 (HLA-B27) on the surface of a person`s white blood cells.

HLA-B27 is found in about 8% of the UK population. Its presence has been associated with several autoimmune disorders. The most common of these disorders is ankylosing spondylitis (AS). In the UK approximately 95% of those with AS are positive for HLA-B27. Other disorders that have an association with the presence of HLA-B27 include juvenile rheumatoid arthritis (JRA), reactive arthritis (of which one subset is Reiter syndrome), and isolated acute anterior uveitis. Though the presence of HLA-B27 supports the diagnosis of these conditions, the relationship between HLA-B27 and the mechanism by which the diseases occur remains to be determined.

HLA-B27 may also be present in people with spondylitis associated with inflammatory bowel disease and psoriatic arthritis. While HLA-B27 has not been established as a cause of these disorders, there is a higher prevalence of the antigen in those affected.


Related Tests:
Cholesterol; HDL; Non-HDL; Triglycerides; Lipid profile; Cardiac Risk AssessmentNote - in the UK, measurement of `non-HDL` cholesterol is now preferred to LDL-cholesterol. Therefore, this page is not being regularly updated.

Why:
determine your chances of developing cardiovascular disease

When:
ed 40 as part of a routine cardiovascular health check, or if you are already thought to be at risk of cardiovascular disease for another reason, or to monitor your response to treatments which lower LDL cholesterol (LDL-C).

Sample Type:
blood sample taken from a vein in the arm, or occasionally from a fingerprick

Test General info:
Cholesterol is carried in the blood by proteins called “lipoproteins”. There are a number of different types of lipoproteins, which are named after how dense they are. LDL stands for ‘low-density lipoprotein’, and any cholesterol carried by LDL is known as LDL cholesterol, or LDL-C. LDL is considered to be undesirable because it deposits excess cholesterol in the walls of blood vessels and contributes to atherosclerosis, also known as `hardening of the arteries` or ‘furring up of the arteries’, and ultimately cardiovascular disease, such as heart disease and strokes. Hence LDL-C is often termed `bad` cholesterol.LDL-C is usually tested as part of a lipid profile. This includes the total cholesterol as well as a “breakdown” of how much of that cholesterol is carried on LDL (ie LDL-C), and how much is carried on ‘high density lipoprotein’ (ie HDL cholesterol). Interestingly, HDL cholesterol seems to have a protective effect on the heart, and is therefore often termed ‘good’ cholesterol. Triglycerides are also measured as part of the lipid profile.In fact, LDL-C is usually not measured directly, but calculated using an equation which uses the other components of the lipid profile. Occasionally LDL-C can be measured directly.


Other Names:
BCR/ABL1; bcr-abl oncogene; BCR-ABL Kinase Domain Mutation Analysis

Related Tests:
Philadelphia chromosome; Fluorescent In Situ Hybridisation (FISH); FBC; Bone Marrow Aspiration and Biopsy; Blood Film; Differential

Why:
help diagnose and monitor the treatment of chronic myeloid leukaemia (CML) and a type of acute lymphoblastic leukaemia (ALL)

When:
en you have results of a FBC and/or signs and symptoms that suggest that you may have leukaemia; periodically when you are being treated for CML or BCR-ABL-positive ALL

Sample Type:
blood sample taken from a vein in your arm or a bone marrow sample collected using a bone marrow aspiration and/or biopsy procedure

Test General info:
BCR-ABL refers to a gene sequence found in an abnormal chromosome 22 of some people with certain forms of leukaemia. Humans normally have 23 pairs of chromosomes, including 22 pairs of non-sex-determining chromosomes (also known as autosomes) and 1 pair of sex chromosomes (XX for females, XY for males). Chromosomes contain a person`s inherited genetic information. The genes that reside there form the blueprints for the production of countless proteins. Sometimes changes can occur to a person`s chromosomes and/or genes during their lifetime, because of exposures to radiation, toxins, or for unknown reasons.The BCR-ABL gene sequence is one such acquired change that is formed when pieces of chromosome 9 and chromosome 22 break off and switch places. When this occurs, the ABL region in chromosome 9 fuses with the BCR gene region in chromosome 22. This is referred to as reciprocal translocation and this particular one is commonly expressed as t(9;22). A derivative chromosome 22 that has the BCR-ABL gene sequence is known as the Philadelphia (Ph) chromosome. It is strongly associated with chronic myeloid leukaemia (CML) and, less commonly with one type of acute lymphoblastic leukaemia (ALL). At diagnosis, around 90-95% of cases of CML are found to have the Philadelphia chromosome. All cases have the BCR-ABL fusion gene, including the Philadelphia chromosome-negative cases. In this small fraction of cases the genes have fused on a more microscopic scale, not involving large chromosomal segments.These BCR-ABL gene sequences at the fusion site encode an abnormal protein. The abnormal BCR-ABL protein is a tyrosine kinase enzyme, a normal signalling protein which has become permanently switched “on” and is responsible for the development of CML and a type of ALL. When large numbers of abnormal leukaemic cells start to crowd out the normal blood cell precursors in the bone marrow, signs and symptoms of leukaemia start to emerge. Treatment of these leukaemias typically involves a tyrosine kinase inhibitor (TKI), given as daily tablets.Testing for BCR-ABL detects the Ph chromosome (the derivative chromosome 22) and BCR-ABL fusion gene or its transcripts, the RNA copies made by the cell from the abnormal stretches of DNA. The presence of the BCR-ABL abnormality confirms the clinical diagnosis in CML or a type of ALL. These are distinguished by the typical appearances of the cells through a microscope and, in the case of ALL, by flow cytometry (or “immunophenotyping”), which looks at molecules expressed inside the cells or more commonly expressed on the leukaemic cell surfaces.There are several different types of BCR-ABL test available, including:Cytogenetics (Chromosome analysis or Karyotyping)
This test looks at chromosomes under a microscope to detect structural and/or numerical abnormalities. Cells in a sample of blood or bone marrow are grown in the laboratory and then examined to determine if the Philadelphia chromosome is present. Other chromosomal abnormalities can also be detected.Fluorescence in situ hybridization (FISH)
This test method uses differently-coloured fluorescent dye-labelled probes to ``light up`` the BCR and the ABL gene sequences. Cells are examined under a microscope to determine the proportion if any where the coloured dots are fused together, indicating a BCR-ABL translocation.Genetic molecular testing, qualitative or quantitative
The polymerase chain reaction (PCR)-based qualitative and quantitative tests detect and measure BCR-ABL gene transcripts, or gene product units, in a patient`s blood and/or bone marrow samples. This is the most sensitive test for BCR-ABL and is used to diagnose the minority of cases negative for the Philadelphia chromosome. It is also used to check the response to tyrosine kinase inhibitors (TKIs). Variant mutations of BCR-ABL can also be analysed if indicated. These mutations are responsible for treatment resistance to TKIs. If the response to treatment is suboptimal, mutational analysis may tell your doctor which TKIs will be more effective.


Other Names:
Beta 2 transferrin; desialated transferrin

Why:
help identify cerebrospinal fluid (CSF) fluid leaking from the skull.

When:
there is a watery discharge from your nose or ear (rhinorrhoea or otorrhoea) after you have suffered a skull fracture or after brain surgery.

Test General info:
Cerebrospinal fluid (CSF) is normally found only within the brain and the spinal canal. If you suffer an injury which causes a tear in the membranes covering the brain and spine, CSF may leak out. This may sometimes cause watery fluid to drip from either the nose or the ear (rhinorrhoea or otorrhoea). Distinguishing CSF from other watery discharge involves looking for the presence of something which would normally only be found in CSF. Tau protein is beta 2 transferrin. This form of transferrin is present in CSF but not usually found in blood, nasal secretions, or other body fluids. The suspected sample should be examined along with a serum sample to confirm results.


Other Names:
Pregnancy test; qualitative hCG; quantitative hCG; beta hCG

Why:
confirm and monitor pregnancy or to diagnose trophoblastic disease or germ cell tumours

When:
early as 10 days after a missed menstrual period (some methods can detect hCG even earlier, at one week after conception) or if a doctor thinks that your symptoms suggest ectopic pregnancy, a failing pregnancy, trophoblastic disease or germ cell tumoursHuman chorionic gonadotrophin (hCG) is also tested as part of the prenatal screening program for Down’s syndrome.

Sample Type:
urine sample collected first thing in the morning or a blood sample taken from a vein in the arm

Test General info:
Human chorionic gonadotrophin (hCG) is a hormone produced in the placenta of a pregnant woman. A pregnancy test is a specific blood or urine test that can detect hCG and confirm or exclude pregnancy. The hormone can be detected 10 days after a missed menstrual period, the time period when the fertilised egg is implanted in the woman`s uterus. With some methods, hCG can be detected even earlier, at one week after conception.During the early weeks of pregnancy, hCG is important in maintaining function of the corpus luteum (which is formed from the ruptured ovarian follicle following ovulation). Production of hCG increases steadily during the first trimester of a normal pregnancy, peaking around the 10th week after the last menstrual cycle. Concentrations then fall slowly during the remainder of the pregnancy.hCG is no longer detectable within a few weeks after delivery. hCG is also produced by some germ cell tumours and increased levels are seen in trophoblastic disease.


Why:
ually as part of a renal profile (collection of tests which help investigate the kidney), to screen for an electrolyte or acid-base imbalance in conditions known to cause such disturbances or to monitor a known imbalance

When:
y be part of a routine blood test that includes electrolyte measurements or may be requested by your doctor if you have a medical condition or are experiencing symptoms that could indicate problems with the acid-base balance of your body

Test General info:
When you breathe, you bring oxygen (O2) into your lungs and release carbon dioxide (CO2). Carbon dioxide in your blood is present in three forms: carbonic acid (H2CO3), CO2 dissolved in blood, and bicarbonate (HCO3-), the predominant form. Bicarbonate is a negatively charged ion that is excreted and reabsorbed by your kidneys. Its main job is to help maintain the acid-base balance (pH) in your body and secondarily to work with sodium, potassium, and chloride to maintain electrical neutrality at the cellular level. 

Measuring bicarbonate gives your doctor a rough estimation of acid-base balance. This is usually sufficient, but measurements of gasses dissolved in the blood may be done if more information is needed. Bicarbonate may be measured with sodium, potassium, and possibly chloride in an electrolyte profile as it is the balance of the three or four that gives your doctor the most information.


Other Names:
Total bilirubin, conjugated or direct bilirubin, unconjugated or indirect bilirubin

Related Tests:
AST, ALT, ALP, GGT, liver function tests

Why:
screen for and monitor liver disorders, such as cirrhosis. To help detect certain rare genetic disorders in sick babies and to avoid brain damage in babies who are markedly jaundiced.

When:
your doctor thinks you have symptoms or signs of liver damage, liver disease, bile duct blockage, haemolytic anaemia or a liver-related metabolic problem.

Sample Type:
adults, a blood sample from a vein in the arm; in newborns, a blood sample from a heel-prick

Test General info:
Bilirubin is an orange-yellow pigment found in bile. The normal life-span of red blood cells in the circulation is 120 days. When they are broken down the pigment giving them their characteristic red colour, haemoglobin, (whose role is to carry oxygen to the tissues) is converted to unconjugated bilirubin. Only small amounts of bilirubin are normally present in the blood. Unconjugated bilirubin is not water soluble so it binds to a protein in the blood which then carries it to the liver. Within the liver, each unconjugated bilirubin molecule has a sugar molecule attached to it to form water soluble conjugated bilirubin. This is secreted into bile and carried to the intestine where bacteria break it down, eventually producing the brown pigment that colours normal stools.


Related Tests:
HDL; Non-HDL; LDL; Triglycerides; Lipid profile; Cardiac risk assessment

Why:
screen for risk of developing cardiovascular disease (heart disease, stroke and related diseases); to monitor treatment

When:
ed 40 as part of a routine cardiovascular health check, or if you are already thought to be at risk of cardiovascular disease for another reason, or if you are taking (or are about to start) treatments which lower cholesterol.

Sample Type:
blood sample taken from a vein in the arm, or occasionally a fingerprick

Test General info:
Cholesterol is a substance that is essential for life. It helps form the membranes for cells in all organs and tissues in your body. It is used to make hormones that are essential for development, growth and reproduction. It forms bile acids that are needed to absorb nutrients from food. Cholesterol comes both from what you eat and from your body`s own production of cholesterol, which takes place in the liver.A small amount of your body’s cholesterol circulates in the blood in complex particles called ``lipoproteins``. These include some particles that carry excess cholesterol away for disposal (see HDL, good cholesterol) and some particles that deposit cholesterol in tissues and organs (see non-HDL, bad cholesterol). The test for cholesterol measures all cholesterol (good and bad) that is carried in the blood. However, when you have a cholesterol test, your doctor would usually be looking to see if it is high, which most commonly is due to having too much bad non-HDL cholesterol.


Other Names:
Factor assays; blood clotting factors; clotting factors; or by the individual factor number (Factor I, Factor II, etc.) or name (Fibrinogen, Prothrombin, etc.)

Related Tests:
Prothrombin Time (PT), Activated Partial Thromboplastin Time (aPTT), Fibrinogen

Why:
determine whether one or more of your coagulation factors are increased, decreased or absent

When:
en you have unexplained or prolonged bleeding, an abnormal Prothrombin Time (PT) or Activated Partial Thromboplastin Time (aPTT) test, or have a relative with a hereditary coagulation factor deficiency; you may be tested when your doctor wants to monitor the severity of a factor deficiency and/or the effectiveness of treatment

Test General info:
Coagulation factors are a group of proteins essential for blood clot formation. When a patient has an unexplained bleeding episode, one possible cause is a reduction in the level of a coagulation factor in their blood. Measuring the level of these factors can help a doctor determine the cause of the bleeding and the best treatment. Levels may also be measured if someone has a family history of bleeding.In most cases, the level of a coagulation factor is determined by measuring the activity or function of the factor in blood. Activity assays can detect reduced levels of protein or proteins that don`t work properly (have reduced function). Rarely, the antigen level of a coagulation factor may be measured. Coagulation factor antigen tests can tell how much of the protein is present but not whether its function is normal.When an injury occurs that results in bleeding, the coagulation system is activated and plugs the hole in the bleeding vessel with a clot while still keeping blood flowing through the vessel by preventing the clot from getting too large. The coagulation system consists of a series of proteins (coagulation factors) that activate in a step-by-step process called the coagulation cascade. The end result is the formation of insoluble fibrin threads that link together at the site of injury, along with aggregated cell fragments called platelets to form a stable blood clot. The clot prevents additional blood loss and remains in place until the injured area has healed. Blood clotting is dynamic; once a clot is formed other factors are activated that slow clotting and begin to dissolve the clot in a process called fibrinolysis. The clot is eventually removed as the injured site is healed. In normal healthy individuals, this balance between clot formation and removal ensures that bleeding does not become excessive, and that clots only occur where and for as long as they are needed.There are nine coagulation factor proteins that are routinely measured clinically (see table below). These factors are referred to by a name or Roman numeral or both in some cases. For example, coagulation factor II is also known as prothrombin. When one or more of these factors are missing, produced in too small a quantity, or not functioning correctly, they can cause excessive bleeding. FactorOther Common Name
IFibrinogen
IIProthrombin
VProaccelerin, labile factor
VIIProconvertin
VIIIAntihaemophilic factor A
IXAntihaemophilic factor B
XThrombokinase, Stuart-Prower factor
XIAntihaemophilic factor C
XIIHageman factor
XIIIFibrin stabilising factor


Related Tests:
Bacterial wound culture, CSF analysis, Full blood count, Fungal infections, Susceptibility testing, Influenza tests, Urine culture

Why:
check for the presence of a systemic infection

When:
en you have signs or symptoms of sepsis like fever, chills, feeling sick, confusion and tiredness which may develop during another illness, such as a urinary tract infection (UTI), pneumonia or a skin infection

Sample Type:
o or more blood samples taken from separate sites (commonly from veins in your arms)

Test General info:
Blood cultures are done to detect and identify bacteria and yeasts (a type of fungus) in the blood. Some bacteria prefer oxygen (aerobes), while others thrive in a reduced oxygen environment (anaerobes). Blood cultures are usually collected into two types of media to detect both types of bacteria. If your blood culture is positive, the specific bacteria causing the infection will be identified and antibiotic susceptibility testing  will be done to tell your doctor which antibiotics will be effective for treatment. If yeasts are causing the infection, treatment will be given that is appropriate for fungal infections. 

Infections of the bloodstream are caused most commonly by bacteria (bacteraemia), but can also be caused by a fungus (fungaemia) or a virus (viraemia). The source of the infection is typically a specific site within the body. If the immune defences and white blood cells cannot keep the infection localised at its source it may spread to the bloodstream. When the body shows an early response to this, such as a high or low body temperature, high heart or breathing rates, and a high or low white blood cell count, it results in a condition known as sepsis.If the infection results in reduced blood flow through the organs of the body, affecting their function, this is referred to as severe sepsis. The result is sometimes a serious, overwhelming illness, septic shock, which is often fatal. Endocarditis, an inflammation and infection of the lining of the heart and/or the heart valves, can result from a bloodstream infection. People who have artificial heart valves or artificial joints have a higher risk of infection following surgery, although these infections are not common. The direct contamination of the blood from “dirty needles” with intravenous drug use, or potentially from intravenous catheters or surgical drains can lead to bloodstream infections. Similarly, anyone with an immune system which is not working properly due to underlying disease (for example, leukaemia or HIV/AIDS) or drug therapy (for example, immunosuppressive agents) has a higher chance of bloodstream infections.


Other Names:
Peripheral blood smear, manual differential, red blood cell morphology

Related Tests:
FBC, differential, RBC, WBC, platelet count, reticulocyte count, haemoglobin, haemoglobin variants

Why:
find out if red blood cells, white blood cells, and platelets are normal in appearance and number; to distinguish between different types of white blood cells and to determine their relative percentages in the blood; to help diagnose a range of deficienci

When:
en FBC results are abnormal, a blood film with manual WBC differential is done to look for abnormal or immature cells; when a doctor suspects a deficiency, disease, or disorder that can affect blood cell production; when you are being treated for a disease with medications that may have an affect on blood cell production.

Sample Type:
blood sample taken from a vein in your arm or by pricking a finger, ear or, in the case of an infant, a heel.

Test General info:
A blood film allows the evaluation of white blood cells (WBCs, leucocytes), red blood cells (RBCs, erythrocytes), and platelets (thrombocytes). These cell are produced and mature in the bone marrow and are released into the bloodstream when needed. WBCs’ main function is to fight infection, while RBCs carry oxygen to the whole of the body. Platelets appear as small cell fragments and, when activated, stick together to form a plug as one of the first steps to stop bleeding. The number and type of each cell present in the blood changes but is normally maintained by the body within specific ranges. Values can change at times of illness or stress; intense exercise or smoking can also affect cell counts.

A blood film is a snapshot of the cells that are present in the blood at the time that the sample is obtained. To produce a blood film, a single drop of blood is spread in a thin layer across a glass slide, dried, and then stained with a special dye. Once the stain has dried the slide is looked at under a microscope by a medical scientist or haematologist.

The drop of blood on the slide contains millions of RBCs, thousands of WBCs, and hundreds of thousands of platelets. Under the microscope, the stained WBCs can be easily seen and counted to estimate the number of each type of cell present. In addition, the size, shape and general appearance of the cells can be compared to that of “normal” cells. It is possible to distinguish between the five different types of WBCs and to find their relative percentages by counting 100 consecutive cells. During this examination, the size, shape and colour (indicators of haemoglobin content) of the RBCs can be measured and the number of platelets estimated.


Other Names:
Blood sugar; Fasting blood sugar; blood glucose; Oral Glucose Tolerance Test (OGTT or GTT); urine glucose

Related Tests:
Insulin, C-Peptide, Urine glucose, HbA1c, Microalbumin, Home Testing

Why:
determine whether or not your blood glucose level is within normal ranges; to screen for, diagnose, and monitor diabetes, and hypoglycaemia (low blood glucose)

When:
you have symptoms suggesting hyperglycaemia (high blood glucose) or hypoglycemia, or if you are pregnant; if you are diabetic, up to several times a day to monitor glucose levels

Test General info:
Glucose is a simple sugar that serves as the main source of energy for the body. The carbohydrates we eat are broken down into glucose (and a few other simple sugars), absorbed by the small intestine and circulated throughout the body. Most of the body`s cells require glucose for energy production; the brain and nervous system cells rely on glucose for energy, and can only function when glucose levels in the blood remain within a certain range.The body`s use of glucose depends on the availability of insulin, a hormone produced by the pancreas. Insulin acts to control the transport of glucose into the body`s cells to be used for energy. Insulin also directs the liver to store excess glucose as glycogen for short term energy storage and promotes the synthesis of fats, which form the basis of a longer term store of energy. We cannot live without glucose or insulin, and they must be in balance.Normally blood glucose levels rise slightly after a meal, and insulin is released to lower them, with the amount of insulin released dependent upon the size and content of the meal. If blood glucose levels drop too low, such as might occur between meals or after a strenuous exercise, glucagon (another hormone from the pancreas) is produced to tell the liver to release some of its glucose stores, raising the blood glucose levels. If the glucose/insulin system is working properly the amount of glucose in the blood remains fairly stable.Hyperglycaemia and hypoglycaemia, caused by a variety of conditions, are both hard on the body. Severe, sudden high or low blood glucose levels can be life threatening, causing organ failure, brain damage, coma, and, in extreme cases, death. Long-term high blood glucose levels can cause progressive damage to body organs such as the kidneys, eyes, blood vessels, heart and nerves. Untreated hyperglycaemia that arises during pregnancy (known as `gestational diabetes`) can cause mothers to give birth to large babies who may have low glucose levels. Long-term hypoglycaemia can lead to brain and nerve damage.


Why:
screen for elevated concentrations of lead in your blood

When:
you may have been exposed to lead where you live or work; children especially should be tested as they may have inhaled dust or ingested substances that could contain lead (e.g., from paint chips or water from lead pipes found in older housing). It is also important that pregnant women who think they may have been exposed also get tested due to the risk of maternal to fetal transfer of lead through the placenta.

Test General info:
The test measures the concentration of lead within the blood. Lead is a metal that is known to be poisonous. In the past, lead was used in paints, petrol, and other household products, which can still be found, for example, in older housing. Some work activities and hobbies can still expose you to lead. While preventable, lead poisoning remains a public health problem in the UK that can cause irreversible damage to the health of children as well as adults. 

If untreated, excess lead in the body can cause great damage, even if a person has no obvious symptoms or problems. Impaired learning and development among children is a major consequence of lead poisoning. The function of the kidneys may also be greatly reduced, and the ability of nerves to conduct messages quickly through the body is a major problem with lead toxicity. Lead can also harm the reproductive organs and cause miscarriages and birth defects when passed from mother to unborn child.


Formal Name:
Bone Marrow Aspiration; Bone Marrow Aspirate; Bone Marrow Biopsy; Bone Marrow Trephine Biopsy

Related Tests:
FBC, Differential, Reticulocyte count, Blood film, Haemoglobin, Haematocrit, Platelet count, WBC, RBC

Why:
evaluate the type, quantity, and maturity levels of the cells present in the marrow; to evaluate the structure of the marrow; and sometimes to collect a sample of marrow for more specific testing

When:
en a patient is anaemic without an obvious cause and/or has a condition or cancer that may be affecting blood cell production; as a means of helping find out how advanced a cancer is; sometimes when a doctor is investigating a fever of unknown origin, especially when the patient is immuno-compromised

Test General info:
Bone marrow aspiration and biopsy are procedures used to collect and test bone marrow. Bone marrow is a soft fatty tissue found inside the body’s larger bones. It has a honeycomb or sponge-like structure, consisting of a network of fibers that is filled with liquid. The liquid contains stem cells, blood cells in various stages of maturation, and “raw materials” such as iron, vitamin B12, and folate that are required for cell production. A bone marrow aspirate collects a liquid sample of cells that can be studied individually. A biopsy collects a cylindrical core sample that preserves the marrow’s structure. The biopsy shows the relationships of bone marrow cells to one another and the overall cellularity – the ratio of marrow cells to fat and other material present in the sample.Red blood cells (RBCs), platelets, and five different types of white blood cells (WBCs) are produced in the marrow as needed, with the number and type of cell being produced at any one time being dependent on the use of cells, loss, and a continual replacement of old cells. For instance, RBCs, which carry oxygen throughout the body, have a lifespan of about 120 days. The marrow alters RBC production so that it can replace old RBCs that are taken out of circulation and maintain a relatively constant number in the blood. The marrow increases the rate of RBC production whenever the person’s number of RBCs decreases, due to such things as bleeding or haemolysis. The increased rate of production continues until there is a sufficient number of RBCs in the blood stream or until marrow production capacity is reached. If the need approaches this capacity, then an increased number of reticulocytes (immature RBCs) will be released into circulation as the marrow tries to keep up. If the need exceeds capacity, then the number of RBCs in the blood stream will decrease and the patient will become increasingly anaemic, with symptoms such as pale skin (pallor), tiredness, and difficulty breathing due to reduced oxygen in the blood.A variety of bone marrow diseases, cancers such as leukaemia, vitamin and mineral deficiencies, inherited conditions, and diseases such as aplastic anaemia can affect the marrow’s ability to produce an adequate number of each of the different blood cell types and release them into circulation. These diseases may affect the total number of cells produced, the proportion of different cells produced, and/or the function of the cells. Some bone marrow disorders may lead to a deficiency of one or more cell types while others result in excess production of a specific type or of a specific clone of a cell - a single cell that reproduces without regulation.Leukaemia, for example, is a cancer of the blood cells. It results in the excessive production of one (or a few) WBC types at the expense of other cell types and can lead to the release of large quantities of abnormal immature WBCs into the blood stream. These WBCs may not fight infection as other WBCs do and leave the patient more vulnerable to infections. When leukaemic WBCs exceed RBC production in the bone marrow, the patient becomes anaemic; when they decrease the number of platelets produced, they leave the patient vulnerable to excessive bruising and bleeding. Other conditions, such as vitamin B or folate deficiency lead to anaemia with large red blood cells and sometimes changes in white blood cells and platelets. Iron deficiency causes anaemia with small red blood cells, sometimes abnormally shaped.. Another disorder, myelofibrosis, is characterized by the overgrowth of fibres in the marrow, compressing cells and leading to changes in red cell shape and changes in the cell counts.Bone marrow aspiration and/or biopsy as a “test” includes both the collection of marrow samples and the evaluation of it under the microscope. Specialists, a pathologist and/or haematologist, examine under a microscope glass slides containing stained smears of marrow samples – the fibrous network and fluid from a biopsy or the fluid from an aspiration. The number, size, and shape of each of the cell types present are examined, as are the proportions of mature and immature cells. If leukaemia is present, or another cancer has spread into the marrow, it can be diagnosed through this examination, and the type and severity of the disease (the stage) can be worked out.Depending on what the doctor thinks may be wrong, additional tests can be done on the marrow sample. In the case of leukaemia, tests to work out the type of leukaemia may be done. These include special stains or the determination of antigenic markers (immunophenotype or “cell markers”) to show just what type of leukaemia is present. Special stains may also be used to look for things such as how much iron is stored in the marrow, and tests are sometimes used to detect chromosomal or genetic abnormalities. Rarely, marrow may be used to look for infections that can cause a “fever of unknown origin”.


Test Name:
Bordetella pertussis Antibodies, IgA, IgG, IgM

Formal Name:
Bordetella pertussis Culture; Bordetella pertussis by PCR; Bordetella pertussis by DFA; Bordetella pertussis Antibodies, IgA, IgG, IgM

Why:
detect and diagnose a Bordetella pertussis infection

When:
en you have persistent, sharp spasms or fits of coughing (paroxysms) that the doctor suspects is due to pertussis (whooping cough); when you have symptoms of a cold and have been exposed to someone with pertussis

Sample Type:
nasopharyngeal (NP) swab or a nasal aspirate; occasionally, a blood sample taken from a vein in your arm

Test General info:
This is a group of tests that are performed to detect and diagnose a Bordetella pertussis infection. B. pertussis is a bacterium that targets the lungs, typically causing a three-stage respiratory infection that is known as pertussis or whooping cough. It is highly contagious and causes a prolonged infection that is passed from person to person through respiratory droplets and close contact.The incubation period for pertussis varies from a few days to up to three weeks. The first stage of the disease, called the catarrhal stage, usually lasts about two weeks and symptoms may resemble a mild cold. It is followed by the paroxysmal stage, which may last for one or two weeks or persist for a couple of months and is characterized by severe bouts of coughing. Eventually, the frequency of the coughing starts to decrease and the infected person enters the convalescent stage, with coughing decreasing over the next several weeks. Pertussis infection, however, can sometimes lead to complications such as pneumonia, encephalitis, and seizures, and it can be deadly. Infants tend to be the most severely affected and may require hospitalization.Pertussis infections used to be very common in the United Kingdom, averaging over one hundred thousand cases per year, with major epidemics occuring every few years. Since the introduction of a pertussis vaccine and widespread vaccination of infants, this number drastically decreased to less than a thousand cases per year in the early 2000s. However, since neither the vaccine - nor the pertussis infection - confers lifetime immunity, health professionals are still seeing periodic outbreaks of pertussis in young unvaccinated infants, in adolescents, and in adults, most recently in 2012 when there were over 6000 recorded cases in England and Wales.Pertussis testing is used to diagnose these infections and to help minimize their spread to others. Several different types of tests are available to detect pertussis infection. Some of these include:Culture Detection of pertussis genetic material (Polymerase Chain Reaction, PCR) Direct fluorescent antibody (DFA) Blood tests for pertussis antibodies, IgA, IgG, IgM Detection of anti-pertussis toxin IgG antibodies in oral fluidPertussis can be challenging to diagnose at times because the symptoms that present during the catarrhal stage are frequently indistinguishable from those of a common cold or of another respiratory illness such as bronchitis, influenza, and, in children, Respiratory Syncytial Virus (RSV). In the paroxysmal stage, many adults and vaccinated patients who have pertussis will present with only persistent coughing. Suspicion of pertussis infection is increased in patients who have the classic “whoop,” in people who have cold symptoms and have been in close contact with someone who has been diagnosed with pertussis, and when there is a known pertussis outbreak in the community. A swab for pertussis culture and/or PCR test will usually be sent from these patients but should not be performed on close contacts that do not have symptoms.


Test Name:
Factor V Leiden mutation: Activated protein C resistance

Other Names:
Factor V Leiden mutation: Activated protein C (APC) resistance; Factor V R506Q; Prothrombin 20210 mutation: PT G20210A; factor II 20210

Formal Name:
Factor V Leiden mutation; Prothrombin G20210A mutation

Related Tests:
Antithrombin; Protein C and Protein S; Homocysteine; Methylenetetrahydrofolate Reductase (MTHFR)

Why:
determine whether you have an inherited gene mutation that increases your risk of developing a venous thromboembolism (blood clot)

When:
you have a strong family history of thrombosis associated with these mutations; if you have unexplained thrombosis that requires further investigation

Test General info:
Factor V and prothrombin are proteins that are produced in the liver and belong to a group of proteins collectively known as coagulation factors. The coagulation factors are activated in a step-by-step process called the coagulation cascade when a blood vessel is injured. The result of the coagulation cascade is formation of a blood clot which creates a barrier at the injury site, protecting it until it heals. The coagulation cascade involves many pro-coagulant proteins (such as factor V and prothrombin) as well as many anti-coagulant proteins (such as activated protein C and protein S), which act in a coordinated manner to keep the process of blood coagulation tightly regulated.Factor V Leiden is a variant form of the factor V protein that arises due to the presence of a common genetic point mutation, a change in one of the nucleotides on the gene that codes for the production of factor V protein. This altered Factor V Leiden protein activates normally to participate in stimulating blood coagulation, but resists being degraded by the anticoagulant activated protein C (APC) and thus remains active for longer than the wild type Factor V protein. The result of this resistance is an increased level of thrombin in the blood which is associated with a higher risk of venous thromboembolism (VTE).The prothrombin (PT) G20210A is a variant form of prothrombin, also caused by a common genetic point mutation. PT G20210A is also associated with an increased risk of VTE. This variant does not alter the activity or the functional properties of the prothrombin protein, but is responsible for the production of higher levels of prothrombin in individuals carrying the variant.Factor V Leiden is found at a high prevalence in the British Causcasian population, up to 1 in 10 individuals will carry the variant; its incidence varies among other ethnicities. An individual may carry one gene with the variant nucleotide alteration and one normal copy and they are described as ‘heterozygous for Factor V Leiden’ or they may, rarely, carry two copies of the variant gene and will be ‘homozygous for Factor V Leiden’. The risk of a person who is heterozygous for Factor V Leiden having a venous thromboembolism is increased by 5-10 fold and the risk of a person who is homozygous is increased around 80 fold. However, venous thromboembolism and its causes are complex and multiple and just because a person carries Factor V Leiden does not necessarily meant that they will have a venous thromboembolism.Similarly, an individual with a single variant gene copy of the PT G20210A variant is heterozygous and those who carry two copies of the variant gene are described as homozygous. The affected person will have a mild to moderate increase in their thrombin production, raising their risk of developing a VTE. PT G20210A is less common in the U.K. than factor V Leiden (about 1-2% of the general population). As with Factor V Leiden, the PT G20210A variant is more prevalent in Caucasians than in those of other ethnic backgrounds. Patients who are heterozygous for PT G20210A have a 2-3 fold increased risk of venous thromboembolism. The risks of having a venous thromboembolism in those with homozygous PT G20210A have not been established due to the rarity of this occurrence.Factor V Leiden and PT G20210A are independent mutations that are inherited separately and thus they are tested for as separate events. The testing of each is intended to identify whether or not the specific mutation is present and to determine whether the person is heterozygous or homozygous for that mutation.


Related Tests:
Full Blood Count, Calprotectin, Stool DNA

Why:
screen for bleeding from the gut/intestine, which may be an indicator of bowel cancer

When:
e test is used to screen for bowel cancer especially as part of the National Bowel Cancer Screening Programme. Outside of the Screening Programme the test is not widely available but it may sometimes be used when a patient has a family history of cancer of the intestine and some other organs, or to help diagnose long-term unexplained anaemia if imaging tests, such as colonoscopy, are unavailable. Patients with symptoms that are suspicious of gut cancer will usually be referred for imaging tests without having the FOB test first.

Test General info:
The faecal occult blood test (FOBT) or faecal immunological test (FIT) checks for blood in your faeces. Normally, there will not be enough blood lost through the gastrointestinal tract (stomach and intestines) to turn a FOBT positive or for you to notice it by looking. Any significant amount of blood being passed (seen as bloody or dark, tarry faeces) should be investigated.A positive FOB test will tell your doctor that you have bleeding occurring somewhere in your gastrointestinal tract. This blood loss could be due to ulcers, diverticulitis, bleeding polyps, inflammatory bowel disease, haemorrhoids (piles), from swallowed blood due to bleeding gums or nosebleeds, or it could be due to benign or malignant tumours. Anything that sticks out into the intestine, like a polyp or tumour, and is rubbed against by the faeces as it passes through, has the potential to bleed now and again. Often this small amount of blood is the first, and sometimes the only, symptom of early bowel cancer, making the FOB a valuable screening tool.


Test Name:
Faecal Occult Blood Test and Faecal Immunochemical Test


Related Tests:
Haemoglobin, Haematocrit, Red blood cell (RBC) count, White blood cell (WBC) count, White blood cell differential count, Platelet count

Why:
determine general health status and to screen for a variety of disorders, such as anaemia and infection, inflammation nutritional status and exposure to toxic substances

When:
part of a routine medical examination or as determined by your doctor

Sample Type:
blood sample taken from a vein in the arm or a finger-prick or heel-prick (newborns)

Test General info:
The full blood count (FBC) is one of the most commonly ordered tests and provides important information about the kinds and numbers of cells in the blood: red blood cells, white blood cells and platelets. Abnormalities in any of these types of cells can indicate the presence of important medical disorders. 

Blood is composed of a variety of living cells that circulate through the heart, arteries and veins carrying nourishment, hormones, vitamins, antibodies, heat and oxygen to the body`s tissues. Blood contains three main components — red blood cells, white blood cells, and platelets — suspended in fluid, called plasma. Red blood cells contain haemoglobin, a protein that carries oxygen to all the tissues of the body. Among other functions, white blood cells are responsible for protecting the body from invasion by foreign substances such as bacteria, fungi and viruses. White blood cells also control the immune process. Platelets help the blood clotting process by plugging holes in broken blood vessels.


Related Tests:
Susceptibility Testing, Bacterial Wound Culture, Blood Culture, CSF Analysis, Urine Culture, AFB Smear and Culture, Gonorrhoea, Stool Culture, Fungal Tests, Sputum Culture, Synovial Fluid Analysis, Pleural Fluid Analysis, Pericardial Fluid Analysis, Perit

Why:
identify the cause of a bacterial infection so appropriate treatment can be given

When:
your doctor suspects that you have a bacterial infection

Test General info:
A Gram stain is used to determine if bacteria are present in an area of the body that is normally sterile, such as spinal fluid. A sample from the infected area is smeared on a glass slide and allowed to dry. A series of stains are applied and then the stained slide is examined under a microscope where bacteria appear either purple (gram positive) or pink (gram negative). The test is named for Dr. Christian Gram, who invented the process.A Gram stain can predict the type of bacteria causing an infection, such as pneumococcal pneumonia or a staphylococcal abscess. Viruses cannot be seen with a Gram stain since they lack the cell wall, which takes up the stain.


Formal Name:
Group A streptococcus; Group A beta haemolytic streptococcus; streptococcus pyogenes

Why:
diagnose a possible bacterial infection of the throat (usually Streptococcus pyogene)

When:
you have a sore throat and fever and your doctor thinks it may have a bacterial cause (although most sore throats are caused by viruses and won`t require antibiotics)

Test General info:
The test identifies Streptococcus pyogenes, known as Group A streptococcus, which are bacteria that infect the back of the throat and are a common cause for an infected and sore throat. Whilst group A Streptococcus is the commonest bacterial cause of a severe sore throat (pharyngitis), it is not the only bacterial cause and others include group C and G streptococcus and arcanobacteria.


Other Names:
GH; Human Growth Hormone (HGH); Somatotropin

Related Tests:
IGF-1 (Insulin-like growth factor-1; also called Somatomedin C); GHRH (Growth Hormone Releasing Hormone); Glucose Tolerance Test; Cortisol; ACTH; TSH; Glucose; Prolactin

Why:
identify diseases and conditions caused by either a deficiency or overproduction of growth hormone (GH), to evaluate pituitary function, and to monitor the effectiveness of GH treatment

When:
part of an evaluation of pituitary function. Slow growth in stature, delayed development (in children), decreased bone density and/or muscle strength, and increased lipids (in adults) all could be related to insufficient GH production. Symptoms suggestive of gigantism in children or acromegaly in adults may be a result of excess GH production

Sample Type:
ually several blood samples are taken at timed intervals from veins in your arm. Sometimes a single sample of blood is required following a fast or after a period of strenuous exercise

Test General info:
Growth hormone (GH) is essential for a child’s normal growth and development and promotes proper long bone growth from birth through puberty. Children with insufficient GH production grow more slowly and are smaller in size for their age; one of the first symptoms of growth hormone deficiency (GHD). It should be noted that short stature in itself can also be related to familial traits or other genetic disorders.  Constitutional delay (i.e. temporary delay in growth) is the most common cause of short stature in childhood.Excess GH is most often due to a benign GH-secreting pituitary tumour. Too much GH can cause children’s long bones to continue to grow beyond puberty, resulting in gigantism with heights of over 2.1 meters. Those with excess GH may also have thickening of facial features, general weakness, delayed puberty, and headaches. 

Although GH is not as active in adults, it does play a role in regulating bone density, muscle mass, and lipid metabolism. Deficiencies can lead to decreased bone densities, lower muscle mass, and altered lipid concentrations. Excess GH in adults can lead to acromegaly, marked not by bone lengthening but by bone thickening. Although symptoms such as skin thickening, sweating, fatigue, headaches, and joint pain can be subtle at first, increased GH concentrations can lead to enlarged hands and feet, enlarged facial bones, carpal tunnel syndrome (trapped nerves), and abnormally enlarged internal organs. If untreated, acromegaly in adults and gigantism in children can lead to complications such as type 2 diabetes, increased cardiovascular disease risk, high blood pressure, arthritis, and in general, a decreased life span. GH stimulation and suppression tests are most often used to diagnose GH abnormalities. Since growth hormone is released by the pituitary gland in bursts throughout the day, random measurements of GH levels are not usually of use clinically.


Other Names:
H. pylori antibody test; H. pylori antigen test; H. pylori breath test

Why:
diagnose an infection with Helicobacter pylori that can cause peptic ulcers

When:
you have gastrointestinal pain or symptoms of an ulcer

Sample Type:
stool sample, blood sample from a vein, tissue biopsy of the stomach lining, or a breath test

Test General info:
These tests are looking for evidence of an infection in your gastrointestinal tract by a bacterium, known as Helicobacter pylori. This bacterium is known to be a major cause of peptic ulcer disease. H. pylori is also associated with the development of gastric (stomach) cancer.


Why:
find out if the phenobarbital level in the blood is at an appropriate level for an individual patient

When:
regular intervals to monitor phenobarbital levels in the blood and if needed to detect low or toxic levels

Test General info:
This test measures the level of phenobarbital in the blood. Phenobarbital is a barbiturate, a sedating drug that depresses the nervous system. Doctors usually prescribe phenobarbital to prevent fits or to relieve anxiety. Phenobarbital is often prescribed to treat epilepsy and other seizure disorders because the drug stabilizes electrical activity in the brain. Patients may become dependent on the drug after prolonged use.Your doctor will monitor your response to phenobarbital to make sure that you have the desired level of the drug in your bloodstream and to find out what is the best dose for you. Monitoring the level also helps assure your doctor that the level of the drug circulating in your bloodstream is not toxic. Your doctor might request a phenobarbital level when you begin taking the drug, and any time while on the drug, to find out if the dose is right for you. Your doctor might also decide to request a test if you begin taking another medicine because several common drugs can affect how your body responds to phenobarbital. The following drugs can have effects with phenobarbital:oral blood-thinning medications like warfarinantidepressantscentral nervous system depressants, sedatives, hypnotics and tranquillisersantihistaminesalcoholoral contraceptivescorticosteroids like prednisonedoxycycline used to treat bacterial infections griseofulvin, a drug used to treat fungal infections phenytoin, another medication often prescribed to treat seizures. It is important for you to have a constant level of phenobarbital in the blood that is within the “target” range. If your level is too low, you may experience fits or anxiety. If the level is too high, you could experience side effects or toxicity . Maintaining a constant, therapeutic level of phenobarbital in the blood can be difficult. Phenobarbital is metabolised by liver enzymes and removed in the urine at different rates, depending on your age and overall health. Depending on dose, age and health, full removal can take several days to weeks. Once the body has reached its capacity to metabolise phenobarbital, small increases in dose can result in large increases in levels of the drug in the blood. Side effects can become more severe, and toxicity may occur.


Why:
determine phenytoin concentration in the blood, to maintain an appropriate level, and to detect phenytoin toxicity

When:
regular intervals to monitor, as needed to detect low or toxic concentrations

Test General info:
This test measures the amount of phenytoin in the blood. Phenytoin is a drug that is used to treat some seizure disorders (also called epilepsy). Seizure disorders affect the brain’s ability to transmit electrical impulses and to regulate nerve activity. During a seizure, a patient may experience changes in consciousness, alterations in sight, smell, and taste, and may experience uncontrolled muscular convulsions of one or more parts of the body.Anyone at any age can experience a seizure. Seizures can be caused by high fevers, decreased oxygen supply, head trauma, exposure to certain toxins and drugs, withdrawal from alcohol after heavy abuse, severe infections, extremely low blood sugar, metabolic disorders, and brain tumours. Seizures may also be seen in newborns as a result of head trauma that occurred in the womb or during birth. In many cases, the cause of seizures is not known and the frequency and severity in those affected varies from patient to patient and may change over time. Patients may experience a single seizure and never have another, may have occasional seizures, or may have recurrent seizures. In rare cases, a patient may have a seizure that starts and does not stop without prompt medical intervention. Most patients do not experience residual damage from seizures, but muscle contractions during attacks may cause acute injuries, and losses in consciousness can lead to falls. In some cases, recurrent seizures can eventually lead to progressive brain damage.Phenytoin is prescribed to help prevent the recurrence of certain types of seizures. It has been widely used in the UK since it was developed in 1938. It is still being prescribed but is gradually being replaced by newer drugs. Blood levels of phenytoin must be maintained within a narrow therapeutic range. Too little and the patient will experience seizures; too much and the patient will experience symptoms associated with phenytoin toxicity, such as: loss of balance and falling, nystagmus (eye movement from side to side), confusion, slurred speech, tremors, and low blood pressure.Keeping a constant level of phenytoin in the blood can be complicated. The drug is metabolized by the liver and excreted in the urine. Enzymes in the liver process phenytoin at a rate that varies from patient to patient and that is affected by a patient`s age (children metabolize it more quickly, the elderly metabolize it more slowly) and also by the health of their liver. When the body has reached its maximum capacity to process phenytoin, small increases in the dose can cause large increases in blood concentrations, increasing the severity of side effects and causing phenytoin toxicity. Most phenytoin is bound to protein in the bloodstream; it is the unbound `free` portion that is active. If a patient has a lower than normal amount of protein in their blood, then they may have an excess of active phenytoin. Adding to the complexity is the fact that phenytoin often interacts with other drugs, increasing or decreasing the other medication’s effectiveness and/or increasing or decreasing phenytoin’s effectiveness.The total effect can be unpredictable. Dosages of phenytoin must be adjusted slowly until a steady concentration in the blood is reached. The actual amount of drug that it takes to reach this steady state will vary from person to person and may change over time. Doctors must also evaluate their patient for side effects and adverse reactions during initial dosage adjustment and over time. These may include:swelling of the gums and/or lymph nodes 
excess hair growth (hirsutism) 
insomnia (not sleeping properly)
nausea 
confusion 
difficulty swallowing 
tiredness
rashesIn some cases, the severity of side effects may cause patient and doctor to seek another anti-seizure medication.


Related Tests:
Calcium, Electrolytes, Vitamin D, Magnesium, Parathyroid Hormone (PTH)

Why:
evaluate the level of phosphate in your blood and to aid in the diagnosis of conditions known to cause abnormally high or low levels

When:
a follow-up to an abnormal calcium level, if you have a kidney disorder or uncontrolled diabetes, and if you are taking calcium or phosphate supplements

Test General info:
The serum phosphate test measures the amount of inorganic phosphate in your blood plasma (the liquid part of blood).

In the body, phosphorus is combined with oxygen to form a variety of phosphates (PO4). Phosphates are vital for energy production, muscle and nerve function, and bone growth. They also play an important role as a buffer, helping to maintain the body’s acid-base balance. About 70% to 80% of the phosphates are combined with calcium to help form bones and teeth, about 10% are found in muscle, and about 1% is in nerve tissue. The rest is found within cells throughout the body, where it is mainly used to store energy; about 1% of total body phosphate is found within plasma. 

Most phosphate in the body comes from dietary sources. A variety of foods, such as beans, peas and nuts, cereals, dairy products, eggs, beef, chicken, and fish contain significant amounts of phosphate. The body maintains phosphate levels in the blood by regulating how much it absorbs from the intestines and how much it excretes or conserves in the kidneys.


Formal Name:
Plasma free metadrenalines (normetadrenaline and metadrenaline)

Why:
help diagnose or rule out a phaeochromocytoma

When:
en you have persistent or episodic high blood pressure and symptoms such as headaches, rapid heart rate, and sweating

Test General info:
The plasma free metadrenalines test measures the amount of metadrenaline and normetadrenaline in the blood. These substances are metabolites of adrenaline (epinephrine) and noradrenaline (norepinephrine). Adrenaline and noradrenaline are catecholamine hormones that help regulate the flow and pressure of blood throughout the body and play important roles in the body`s response to stress.Catecholamines are produced in the adrenal medulla – the interior portion of the adrenal glands – and secreted into the blood. Once these hormones have completed their actions, they are metabolised to inactive compounds. Noradrenaline breaks down into normetadrenaline and hydroxymethylmandelic acid (HMMA) (also called vanillylmandelic acid (VMA)), and adrenaline becomes metadrenaline and HMMA. Both of the catecholamines and their metabolites are normally found in small fluctuating quantities in the blood and urine.A rare tumour called a phaeochromocytoma can produce large amounts of catecholamines, resulting in significantly increased concentrations of metadrenaline and normetadrenaline. About 80-85% of phaeochromocytomas form in the adrenal glands and, while a few are cancerous, most are benign – they continue to grow but usually do not spread beyond their original location.The catecholamines produced by phaeochromocytomas can cause persistent hypertension and episodes of severe high blood pressure. This can cause symptoms such as headaches, palpitations, sweating, nausea, anxiety, and tingling in the extremities. Left untreated, the symptoms may worsen as the pheochromocytoma grows. Over time, hypertension caused by the tumour may cause kidney damage, heart disease, and raise the risk of a stroke or heart attack.Several tests, including plasma free metadrenalines, can detect the presence of phaeochromocytomas. Although they are rare, it is important to diagnose these tumours because they cause a potentially curable form of hypertension. In most cases, the pheochromocytomas can be surgically removed, which eliminates the high blood pressure and its associated symptoms and complications.


Why:
help diagnose sepsis in a person who is critically ill; to help determine the risk of severe sepsis leading to septic shock in a person who has sepsis; to distinguish bacterial from non-bacterial infections

When:
en someone is seriously ill and a doctor wants to distinguish between sepsis and other causes of the illness; to help guide treatment in a patient with sepsis

Test General info:
This test measures the amount of procalcitonin in the blood. Procalcitonin is made during the process of producing the thyroid hormone calcitonin. It is normally produced by special cells in the thyroid gland called C-cells and is present in low levels in the blood. However, it may also be made by other cells in the body when stimulated by certain disease processes, in particular whole body bacterial infaction (systemic bacterial infection or sepsis) as opposed to just local bacterial infections. Other reasons for increased procalcitonin include infection from other causes, tissue damage due to events such as trauma, surgery, pancreatitis, burns, heart attack; and rapid and severe organ (kidney, heart, lung etc) transplant rejection.

Levels of procalcitonin in the blood increase rapidly and to high concentrations when a person has sepsis. They are not as particularly increased when a person has a viral infection or other illnesses which may have the same or similar symptoms as sepsis. Difference in stimulous gives procalcitonin the potential to be used to help detect severe bacterial infection at an early stage and to be able to distinguish between a bacterial infection and another cause of a serious illness.


Why:
st commonly, to help determine the cause of infertility, by assessing whether you have ovulated. May also be used in other situations, such as, to help diagnose an ectopic or failing pregnancy or to help diagnose the cause of abnormal uterine bleeding

When:
specific times during a woman’s menstrual cycle (period) to determine whether/when she is ovulating and producing eggs, and sometimes during early pregnancy if symptoms suggest an ectopic or failing pregnancy.

Test General info:
This test measures the concentration of progesterone in the blood. Progesterone is a hormone whose main role is to help prepare a woman’s body for pregnancy; it works together with several other female hormones.On a monthly basis, the hormone oestrogen causes the endometrium (the lining of the womb, or uterus) to grow and replenish itself, while a surge in luteinising hormone (LH) leads to the release of an egg from one of the two ovaries. The corpus luteum (a small yellow mass of cells) then forms in the ovary at the site where the egg was released and begins to produce progesterone. This progesterone stops endometrial growth and prepares the uterus for the possible implantation of a fertilised egg. If menstrual cycles are regular and conform to a standard 28 day length, progesterone concentrations will normally peak on approximately day 21 of the cycle (with day 1 being the first day of menstruation).If fertilisation does not occur, the corpus luteum degenerates, progesterone concentrations fall, and menstrual bleeding begins. If a fertilised egg is implanted in the uterus, the corpus luteum continues to produce progesterone. After several weeks, the placenta replaces the corpus luteum as the main source of progesterone, producing relatively large amounts of the hormone throughout the rest of a normal pregnancy.


Formal Name:
Oestrogen and Progesterone receptor status

Why:
determine whether a breast cancer tumour is positive for oestrogen and/or progesterone receptors, which helps to guide treatment and determine prognosis

When:
you have been diagnosed with breast cancer and your doctor wants to determine whether the tumour`s growth is influenced by the hormones oestrogen and/or progesterone

Sample Type:
sample of breast cancer tissue obtained during a biopsy or a tumour removed surgically during a lumpectomy or mastectomy

Test General info:
Oestrogen receptors and progesterone receptors are specialised proteins found within certain cells throughout the body. These receptors bind the female hormones, oestrogen and progesterone, which both circulate in the blood.

Many breast cancer tumours have receptors for oestrogen and/or progesterone, often in large numbers. When receptors are present, the tumour is said to be Oestrogen Receptor positive (ER-positive) and/or Progesterone Receptor positive (PR-positive). These tumours are said to be hormone-dependent, and oestrogen and/or progesterone feed their growth. Breast cancer tissue can be tested to see if it is positive for these receptors.


Related Tests:
FSH, LH, Testosterone, Oestrogen, Progesterone

Why:
determine whether or not your prolactin concentrations are higher (or occasionally lower) than normal

When:
en you have symptoms of an elevated prolactin, such as galactorrhoea (breast milk production, not during pregnancy) and/or visual disturbances and headaches; as part of investigation for female and male infertility; for follow up of low testosterone in men

Test General info:
Prolactin is a hormone produced by the anterior pituitary gland, a grape-sized organ found at the base of the brain. Prolactin concentrations are regulated by dopamine (a brain chemical), and the hormone is normally present in low amounts in men and non-pregnant women. Its main role is to promote lactation (breast milk production).Prolactin concentrations are usually high throughout pregnancy and just after childbirth. During pregnancy prolactin, oestrogen and progesterone stimulate breast milk development. Following childbirth, prolactin helps initiate and maintain the breast milk supply. If a woman does not breastfeed, her prolactin concentration will soon drop back to pre-pregnancy levels. If she does breastfeed, suckling by the infant plays an important role in the release of prolactin. When the baby feeds, this has an effect on the amount of prolactin secreted by the pituitary, and this is turn controls the amount of milk produced. Prolactin concentrations will continue to be high while the mother continues to breastfeed, but will eventually fall back to pre-pregnancy levels.Besides pregnancy, the most common cause of elevated prolactin concentration is a prolactinoma, a prolactin-producing tumour of the pituitary gland. Prolactinomas are the most common type of pituitary tumour and are usually benign. They develop more frequently in women but are also found in men. Problems can arise both from the unintended affects of excess prolactin, such as milk production in the non-pregnant woman (and rarely, man) and from the size and location of the tumour.If the pituitary gland and/or the tumour enlarge significantly it can put pressure on the optic nerve, causing headaches and visual disturbances; and it can interfere with the other hormones that the pituitary gland produces. In women, prolactinomas can cause infertility and irregularities in menstruation; in men, these tumours can cause a gradual loss in sexual function and desire. If left untreated, prolactinomas may eventually damage tissues surrounding them.


Other Names:
Lyme disease antibodies by ELISA; Lyme disease antibodies by Western blot; Lyme disease bacterial DNA by PCR

Formal Name:
Borrelia burgdorferi IgM and IgG antibodies; Borrelia burgdorferi DNA by PCR

Why:
see if you have been exposed to the bacterium that causes Lyme disease

When:
you show symptoms of Lyme disease, especially if they appear some weeks after a painless bite from a small tick or you have recently been in woodland or long grass

Test General info:
Your blood is being tested for antibodies to the Lyme disease bacterium. Their presence means you have been infected with the Lyme disease spiral bacterium (spirochaete) known as Borrelia burgdorferi by a bite from an infected tick.People bitten by an infected tick which is not removed within a day or so may develop Lyme disease. An expanding rash called erythema migrans appears at the site of the bite within 3 to 30 days in a large proportion of those infected. The rash spreads and often develops a “bulls-eye” appearance. Many also develop flu-like symptoms with aching joints and muscles. The disease can later affect the nervous system, joints and other body systems.It takes the body two to three weeks to produce detectable levels of B. burgdorferi antibodies. Immunoglobulin M (IgM) antibodies are produced first, increase to maximum concentrations at about six weeks and then begin to decline. Immunoglobulin G (IgG) antibodies are detectable several weeks after exposure, increase to maximum levels at about four to six months, and may remain at high levels for many years.


Test Name:
Borrelia burgdorferi IgM and IgG antibodies


Test Name:
Brain natriuretic peptide, NT-proBNP, N terminal pro B type natriuretic peptide, natriuretic peptides


Other Names:
BRCA; Breast Cancer Susceptibility Genes 1 and 2

Formal Name:
Breast Cancer Gene 1 and Breast Cancer Gene 2

Related Tests:
CA-125; CA 15-3; Her2/neu; Hormone Receptor Status; Tumour Markers

Why:
assess the risk of developing breast and/or ovarian cancer

When:
a BRCA1/2 mutation is present in a family member; if you have a very strong family history of breast and/or ovarian cancer; if you have had a breast cancer under the age of 35 that is hormone receptor negative

Test General info:
The genetic code of two genes; the BRCA-1 and BRCA-2 genes will be analysed in detail to look for alterations (mutations) that are linked with an inherited tendency to breast and ovarian cancers. Most cancers will not be explained by such an alteration, but approximately 5% of all breast cancers are will have developed on the background of an inherited BRCA1/2 mutation. The inheritance of such a mutation is associated with a younger than average diagnosis of breast cancer (often, but not always below the age of 50, and sometimes as young as 30), so that a strong family history of young onset breast and ovarian cancer should alert the clinician to the possibility of a BRCA1/2 mutation. Note most clinical genetic services in the UK will have referral guidelines delineating the degree of family history and NICE has issued guidance about management of such families.


Test Name:
Breast Cancer Gene 1 and Breast Cancer Gene 2


Test Name:
Breast Cancer Susceptibility Genes 1 and 2


Why:
evaluate kidney function and monitor the effectiveness of dialysis

When:
you have non-specific symptoms that may suggest a kidney problem or if you are suddenly ill or have a long term illness that may cause or be made worse by kidney disease

Test General info:
Urea is produced when protein is broken down by the body. Nitrogen in the form of ammonia is produced in the liver when protein is broken down. The nitrogen combines with other chemicals in the liver to form the waste product urea. The urea is released into the bloodstream and carried to the kidneys where it is filtered out of the blood and excreted in the urine. Healthy kidneys remove more than 90% of the urea the body produces, so blood levels can show how well your kidneys are working.

Most diseases that affect the kidneys or liver can affect the amount of urea present in the blood. If increased amounts of urea are produced by the liver or decreased amounts are removed by the kidneys then blood urea concentrations will rise. If significant liver damage or disease reduces the production of urea then urea concentrations may fall.


Formal Name:
Human epidermal growth factor receptor-2

Why:
determine whether a cancer, usually a breast cancer, is positive for HER-2 gene amplification or protein expression, which helps to guide treatment and determine outcome. HER-2 evaluation is also used in the assessment of some other cancer types including

When:
you have been diagnosed with a cancer which may be responsive to treatment with HER-2 targetted therapy and your doctor wants to determine whether the HER-2 gene is amplified in the tumour.

Sample Type:
sample of cancer tissue obtained during a biopsy. Generally this test is done on the biopsy taken for initial diagnosis and a second biopsy is not necessary. While HER-2 levels can be assessed in a blood sample, this is not usually done as treatment decis

Test General info:
HER-2 is an oncogene present in the nucleus of all cells. It encodes for a cell surface receptor of a chemical growth factor; when the growth factor binds to the receptor it becomes activated and this causes the cell to grow. Normal epithelial cells contain two copies of the HER-2 gene and produce low levels of the HER-2 protein. In about 20-30% of invasive breast cancers (and some other cancers, such as gastric, oesophageal, ovarian and bladder cancer), the HER-2 gene has additional copies produced (gene amplification) and an abnormally large amount of the protein is produced (protein over-expression). Cancers which have this over-expression tend to grow more rapidly and do not respond well to hormonal therapy and some chemotherapy, so these patients generally have a poorer outcome.There are two main ways to test HER-2 status in cancer tissue: immunohistochemistry (IHC) and in situ hybridization undertaken either using a fluorescent or chromogen method (FISH or CISH). IHC measures the amount of HER-2 protein present. FISH and CISH look at the level for HER-2 gene amplification (the number of copies of the gene present). IHC is currently the most widely used initial testing method; however, if the result is not clear, then the FISH or CISH method is often done as a follow-up test.


Why:
monitor insulin production by the beta cells in the pancreas and to help determine the cause of hypoglycaemia (low blood sugar)

When:
you have diabetes mellitus and your doctor wants to see if you are producing any of your own insulin, if you are thought to be insulin resistant (when your body does not respond properly to insulin), or to help establish if it is time to add insulin injections to your current treatment. Your doctor also may request a C-peptide blood test if you have an episode of low blood sugar, called hypoglycaemia.

Sample Type:
blood sample taken from a vein in your arm and sometimes a 24-hour urine sample is taken

Test General info:
This test measures the amount of C-peptide in a blood or urine sample. C-peptide and the hormone insulin are created from a larger molecule called proinsulin, and stored in the beta cells of the pancreas. When insulin is released into the bloodstream to help transport glucose into the body`s cells (to be used for energy), equal amounts of C-peptide also are released. This makes C-peptide useful as a marker of insulin production and indeed better in some cases than insulin as it is more stable in the blood.C-peptide can be used to help evaluate the production of endogenous insulin (insulin made by the body`s beta cells) and to help differentiate it from exogenous insulin (insulin that is not produced by the body, e.g. injected insulin). This differentiation can be used to help diagnose and monitor a variety of conditions.


Related Tests:
High-sensitivity C-reactive protein (hs-CRP); erythrocyte sedimentation rate (ESR)Were you looking for the high-sensitivity CRP (hs-CRP) test, used to assess your risk of cardiovascular disease?

Why:
identify the presence of inflammation, to determine its severity, and to monitor response to treatment.

When:
en your doctor suspects that you might be suffering from an inflammatory disorder (as with certain types of arthritis and autoimmune disorders or inflammatory bowel disease) or to check for the possibility of infection (especially after surgery)

Test General info:
C-reactive protein (CRP) is an acute phase reactant, a protein made by the liver that is released into the blood within a few hours after tissue injury, the start of an infection or other inflammation. Increased concentrations in the blood can be found after a heart attack, in sepsis, and after a surgical procedure. It is often the first evidence of inflammation or an infection in the body, with rising concentrations frequently preceding pain, fever or other clinical indicators.. The concentration of CRP in the blood can jump a thousand-fold in response to inflammation and can be valuable in monitoring disease activity.The CRP blood test is not diagnostic but it provides information to the doctor as to whether inflammation is present. This information can be used by the doctor in conjunction with other factors, such as signs and symptoms, physical examination and other tests to determine if someone has an acute inflammatory condition, or if they are experiencing a flare-up of a chronic inflammatory disease. The doctor may then follow up with further testing and treatment.


Other Names:
C. difficile; C. diff; C. diff infection (CDI) testing

Formal Name:
C. difficile Culture; C. difficile Cytotoxin Assay; C. difficile Toxin EIA; Glutamate Dehydrogenase EIA; C. difficile toxin PCR

Why:
detect the presence of an infection caused by toxin-producing Clostridium difficile

When:
en a hospital patient over 2 years old or an outpatient over 65 years old has acute diarrhoea that has no other obvious cause, especially during or following treatment with antibiotics.

Sample Type:
fresh unformed stool sample that has not been contaminated with urine or water

Test General info:
These tests detect the presence of Clostridium difficile or toxins produced by C. difficile in a fresh or frozen stool sample. C. difficile is a bacterium that is present in the intestines of up to 70% of healthy infants and 5% of healthy adults. C. difficile is one of the groups of bacteria that usually inhabit the colon and as such are called “normal flora.” If something happens to prevent the growth of the other normal flora, such as broad-spectrum antibiotic therapy, C. difficile may overgrow and disrupt the balance of bacteria in the colon. About 75% of C. difficile produce two toxins, A and B. The combination of overgrowth and toxin production can cause prolonged acute diarrhoea and the toxin can damage the lining of the colon and lead to pseudomembranous colitis, a severe inflammation of the colon.  C. difficile is the major cause of antibiotic-associated diarrhoea in the hospital, affecting as many as 20% of those who are taking antibiotics for other infections. While C. difficile is frequently carried by infants, it does not usually cause diarrhoea in this population. The risk of being affected increases with age and is increased in those who are immunocompromised, have acute or chronic colon conditions, have been previously affected by C. difficile, or who have had recent gastrointestinal surgery or chemotherapy. About 80% of the time, C. difficile-associated diarrhoea (also known as C. difficile infection; CDI) occurs in patients who have been taking antibiotics for several days, but it can also occur several weeks after treatment is completed.The severity of C. difficile diarrhoea and colitis may vary greatly ranging from mild diarrhoea to a more severe colitis, or to toxic megacolon, which can result in sepsis and death. Symptoms may include frequent loose stools, abdominal pain and cramps, nausea, fever, dehydration, and fatigue. Patients may have blood, mucous, or white blood cells (WBCs) in their stool and frequently have leucocytes (increased numbers of WBCs in their blood). While some cases of C. difficile diarrhoea and colitis do not require treatment, others require specific oral antibiotic therapy. Most patients improve as the normal flora re-establishes itself, but about 20% of patients may have one or more relapses, with symptoms and detectible toxin levels re-emerging.


Other Names:
C1; C1q; C2; C3; C4; Total Complement; CH50; CH100; Total Haemolytic Complement Activity; C1 esterase inhibitor

Formal Name:
Complement Activity; Complement Component C3; Complement Component C4

Why:
determine whether complement system proteins are contributing to increased infections or autoimmune disease. To monitor the activity of certain autoimmune diseases. To help diagnose hereditary angioedema.

When:
en you have recurrent (usually bacterial) infections, unexplained episodes of swelling, or symptoms related to certain autoimmune disorders. Periodically to help monitor a known long term disease such as systemic lupus, that affects the complement system.

Test General info:
Complement tests measure the quantity or activity of complement proteins in the blood. The complement system is composed of a set of circulating blood proteins that work together to promote protective immunity. Their principal role is to destroy bacteria and viruses. The nine main complement proteins are labelled C1 through C9. These proteins are assisted and regulated by several subcomponents, inhibitors, and regulators. The complement system is part of the body`s innate immune system. Complement activation may be achieved in 3 different ways. These are termed classical, alternative or lectin pathways. However, the final product from all activation pathways is the same – the formation of the Membrane Attack Complex (MAC). Complement activation causes several things to happen:The MAC binds to the surface of each microorganism or abnormal cell that has been targeted for destruction. It creates a hole and causes the cell to rupture by letting the contents leak out – like piercing a water-filled balloon.It increases the leakiness of blood vessels, allowing infection-fighting white blood cells (WBCs) to move out of the bloodstream and into the tissues.It attracts WBCs to the site of the infection.It stimulates white blood cells such as macrophages and neutrophils to kill swallow and kill bacteria.It locks up the bacteria into cage like structures that dissolve in the bloodstream which are easily cleared.Complement proteins both promote and regulate these activities. Inherited or acquired deficiencies or abnormalities in one or more of the complement components may adversely affect the integrity and function of the immune system. Deficiencies may arise because of decreased production or increased consumption of one or more complement proteins. These tests measure the quantity or the function of complement proteins in the blood. Complement components may be measured individually and together to determine whether the system is functioning normally. C3 and C4 are the most frequently measured complement proteins. Total complement activity (CH50 or CH100, and AP50 or AP100) can be measured if a doctor suspects a deficiency that is not measured by C3 or C4. CH50/CH100 measures the function of the complete classical complement pathway, and AP50/100 measures the function of the complete alternative complement pathway. If this measurement is significantly reduced, then each of the nine different complement levels can be measured individually to look for hereditary or acquired deficiencies.


When:
fore starting therapy for ovarian cancer or if at high risk for developing ovarian cancer, and at intervals during and after treatment. CA 125 may also be request by your GP if you have persistent or frequent symptoms that may be caused by ovarian cancer.

Test General info:
CA 125 is a protein often found on the surface of ovarian cancer cells and in some normal tissues. It is used as a marker for ovarian cancer. However, CA 125 levels may also be high in other types of non-cancerous conditions, including menstruation, pregnancy, and pelvic inflammatory disease.


Why:
monitor the response to treatment of breast cancer and to watch for recurrence of the disease

When:
en you have been or are being treated for breast cancer

Test General info:
Cancer antigen 15-3 (CA 15-3) is a normal product of breast cells. Concentrations of CA 15-3 in the blood are often increased in breast cancer. CA 15-3 does not cause cancer; rather, it is a protein that is shed by the tumour cells, making it useful as a marker to follow the course of the cancer. 

CA 15-3 is rarely elevated in women with localised breast cancer but is increased in about 75% of those with breast cancer that has metastasised (spread to other organs). CA 15-3 also may be elevated in healthy people and in individuals with other cancers, or diseases, such as bowel cancer, lung cancer, cirrhosis, hepatitis, and benign breast disease.


Related Tests:
Bilirubin, CEA, Liver Function Tests, Tumour Markers

Why:
help tell the difference between cancer of the pancreas and bile ducts and other conditions; to monitor response to pancreatic cancer treatment and to watch for recurrence.

When:
en your doctor suspects that you have pancreatic cancer and during or following pancreatic cancer treatment.

Test General info:
Cancer antigen 19-9 (CA 19-9) is a protein that exists on the surface of certain cells. CA 19-9 does not cause cancer; rather, it is a protein that is produced by the tumour cells, making it useful as a tumour marker to follow the course of the cancer. 

CA 19-9 is elevated in most patients with advanced pancreatic cancer, but it may also be elevated in other cancers and diseases such as bowel cancer, lung cancer and gall bladder cancer, as well as in benign diseases such as gall stones, pancreatitis, cystic fibrosis, and liver disease. Because elevated levels of CA 19-9 are seen in many diseases, elevated level do not necessary mean the presence of pancreatic cancer.  Very small amounts of CA19-9 may also be found in healthy patients.


Why:
measure the amount of caeruloplasmin in the blood; to help diagnose Wilson’s disease; sometimes to help identify conditions associated with copper deficiencies

When:
en you have jaundice, tiredness, tummy pain, behavioural changes, tremors, or other symptoms that your doctor thinks may be due to Wilson’s disease or, rarely, to copper deficiency. At intervals when monitoring a copper related disease or its treatment.

Test General info:
This test measures the amount of caeruloplasmin in the blood. Caeruloplasmin is a copper-containing enzyme that plays a role in the body’s iron metabolism. Copper is an essential mineral that is absorbed into the body through diet. It is absorbed in the intestines and then carried to the liver, where it is stored or used to make a variety of enzymes. The liver binds copper to apocaeruloplasmin to produce caeruloplasmin and then releases it into the bloodstream. About 95% of the copper in the blood is bound to caeruloplasmin. Caeruloplasmin can be used with one or more copper tests to help diagnose Wilson’s disease and evaluate copper metabolism.


Related Tests:
Creatinine; creatinine clearance; microalbumin; cystatin c; urine protein

Why:
the UK, the National Institute for Health and Care Excellence (NICE) guidance (CG182) states: “Whenever a request for serum creatinine measurement is made, clinical laboratories should report an estimate of GFR (eGFR)”

When:
a practical test to look for evidence of kidney damage. For a more definitive assessment of kidney function or to monitor changes in kidney function if you already have kidney disease, measurement of creatinine clearance is preferred.

Sample Type:
FR is an estimate of actual glomerular filtration rate, calculated using your age, weight, gender, and serum creatinine (requires a blood sample from a vein in your arm); in some formulas, race is also used in the calculation. Measured Creatinine Clearanc

Test General info:
Glomerular filtration rate (GFR) is a measure of the function of your kidneys. Glomeruli are tiny filters in your kidney that allow waste products to be removed from the blood, while preventing loss of important proteins and blood cells. The rate refers to the amount of blood that is filtered per minute. When a person`s kidney function declines due to damage or disease, then the filtration rate decreases and waste products begin to accumulate in the blood.Chronic kidney disease (CKD) is associated with a decrease in kidney function that is often progressive. CKD can be seen with a variety of conditions, including diabetes and high blood pressure. Early detection of kidney dysfunction can help to minimise the damage. This is important, as symptoms of kidney disease may not be noticeable until as much as 30 to 40% of kidney function is lost.A measured GFR is considered the most accurate way to detect changes in kidney status, but measuring the GFR directly is complicated, requires experienced personnel, and is typically performed in a research setting. Because of this, an estimate – the eGFR – is usually used.The eGFR is a calculation based on a serum creatinine test result. Creatinine is a muscle waste product that is filtered from the blood by the kidneys and excreted into the urine at a relatively steady rate. When kidney function decreases, less creatinine is excreted and concentrations increase in the blood. Using the creatinine test result, a reasonable estimate of the actual GFR can be determined.


Related Tests:
RET Oncogene; Calcium; TSH; FT3; FT4; Thyroglobulin; CEA

Why:
help diagnose and monitor C-cell hyperplasia and medullary thyroid cancer (MTC); to screen those at risk for multiple endocrine neoplasia type 2 (MEN 2)

When:
your doctor suspects that you have MTC, if you are being treated for MTC, or if a family member has MTC or MEN 2

Test General info:
This test measures the amount of calcitonin in the blood. The function of calcitonin in the human body is unknown; what is known is that it is a hormone produced by C-cells in the thyroid. The thyroid is a small butterfly-shaped gland that lies over and flat against the windpipe in the throat. It produces several hormones, primarily T4 (thyroxine) and T3 (triiodothyronine), that help control the rate of metabolism.In two rare conditions, C-cell hyperplasia and medullary thyroid cancer (MTC), excessive amounts of calcitonin are produced. C-cell hyperplasia is a benign condition that may or may not progress to become MTC. MTC is malignant – it can spread beyond the thyroid and can be difficult to treat if it is not discovered early.

About 75-80% of MTC cases are sporadic, but about 20-25% are related to an inherited mutation in the RET oncogene that leads to multiple endocrine neoplasia type 2 (MEN 2), a syndrome associated with several related diseases, including MTC. The altered RET oncogene is inherited in an autosomal dominant fashion. This means that only 1 copy of the mutated oncogene, from either your father or mother, is required to have a greatly increased risk of developing MTC. Most cases of sporadic MTC develop when patients are in their 40s or 50s and the prevalence is higher in women, but inherited MTC affects both sexes equally and can occur at an early age.


Related Tests:
Phosphate, Vitamin D, Parathyroid Hormone (PTH), albumin

Why:
determine if the concentration of calcium in your blood is at normal levels.

When:
persons with kidney, bone, or nerve disease, or when symptoms of abnormal calcium are present.

Sample Type:
blood sample taken from a vein in your arm; a timed urine collection may be used when blood calcium is abnormal; urine calcium measurements may also be requested if you have kidney stones

Test General info:
Calcium is one of the most important minerals in the body. About 99% of it is found in the bones, and most of the rest circulates in the blood. Roughly half of the calcium is referred to as `free` (or `ionized`), and is active within the body; the remaining half, referred to as `bound` calcium, is attached to protein and other compounds and is inactive.

Most commonly, doctors measure the total amount of calcium in the blood (called total calcium); this measures both the active and inactive forms of calcium. If measurement of the active form of calcium (ionized calcium) is needed, special sample handling is required. Urine calcium tells how much calcium is being excreted by the kidneys.


Other Names:
Urinary Stone Analysis; Calculus Analysis; Renal Stone Analysis

Related Tests:
Urinalysis; Uric Acid; Calcium; Phosphate; Creatinine; Oxalate; Citrate; Cystine

Why:
evaluate the composition of a kidney stone, to help determine the cause of its formation and to guide treatment

When:
stone can be analysed either after a surgeon has removed it from your urinary tract or if you catch a stone that has come out of your urinary tract when passing urine

Sample Type:
stone filtered from your urine or surgically removed from your urinary tract by a doctor

Test General info:
Kidney stone analysis uses one or more test methods to examine and determine the composition of a stone from the urinary tract. This is done in order to help identify the cause of the stone and, where possible, to prevent the formation of more stones.The urinary tract consists of two kidneys, two ureters, the bladder, and the urethra. The kidneys filter the blood to remove waste substances, which are excreted from the body in the urine. Urine is transported from the kidneys to the bladder through tube-like ureters and eliminated from the bladder through the urethra. This is a continual process of waste filtration, urine production, and elimination.Kidney stones, also known as renal stones, urinary tract stones or calculi, can form in the kidneys and in other parts of the urinary tract. Kidney stones can cause problems either because they grow large enough to obstruct urine flow or because they become dislodged or break off and begin to travel from a kidney through the ureter. They can cause temporary obstruction and stretch, irritate, and/or damage the walls of the ureters. This movement can cause sudden, extremely severe pain that may be intermittent or continuous (‘renal colic’).Many stones will eventually pass out of the body in the urine, but some are too large or have too irregular a shape for the body to expel. With very large stones, which typically cannot pass from the kidney into the ureters, and for smaller stones that get into but do not pass all the way through the ureters, some form of treatment is needed. The stone may need to be surgically removed, often using devices that pass through the urethra and bladder to the site of the stone (cystoscope or ureteroscope). With some stones, it is possible to use extracorporeal shock wave lithotripsy. A beam of ultrasound shock waves from outside the body is focussed onto the stone, which breaks into smaller pieces. The smaller particles and fragments that remain can then pass through the urinary tract.Stones can develop for several reasons, but the most common is because there is a high concentration of a particular chemical substance in the urine that precipitates and forms crystals. This can happen when a person produces and excretes an excess amount of the substance. Crystals can also form if the urine is concentrated throughout the day because the person is not drinking much fluid. Depending on how much and what type of material crystallises and where it forms, a kidney stone may be round, sharp and pointy or irregular with branches (called a staghorn). It can range in size from a grain of sand to bigger than a golf ball.The composition of the stone depends upon the chemicals present in excess. It may be all one chemical compound or have different chemicals in different layers.Common types of kidney stones include:Calcium oxalateCalcium phosphateUric acidStruvite (magnesium ammonium phosphate) - stones associated with a bacterial infectionThese four types make up about 95% to 99% of kidney stones. About 75% of stones will contain calcium. Less common stones include:Cystine - stones associated with an inherited excess of cystine excretionDrug-related - stones that are associated with drugs such as guaifenesin, indinavir, triamterene, atazanavir, and sulfonamides.In the UK, about one in ten people will have a urinary stone sometime in their lives. Men are more likely to have stones than women. People who have had a stone in the past are more likely to develop stones in the future.Kidney stone analysis uses one or more test methods to examine and determine the composition of a stone from the urinary tract. This is done in order to help identify the cause of the stone and, where possible, to prevent the formation of more stones.


Related Tests:
Phenytoin, Therapeutic Drug Monitoring, Valproic acid

Why:
determine the concentration of carbamazepine in the blood to establish an appropriate dose and to maintain a therapeutic level

When:
the beginning of treatment to monitor the concentration of the drug in the blood. 
When indicated to detect low or high (potentially toxic) concentrations.

Test General info:
This test measures the amount of carbamazepine in the blood. Carbamazepine is a drug that is primarily used to treat certain seizure disorders (also called epilepsy), but is also prescribed to stabilize the moods of patients with bipolar disease and to help alleviate some types of nerve pain (e.g trigeminal neuralgia). It may be prescribed by itself or in combination with other antiepileptic drugs.Carbamazepine levels are monitored because the drug must be maintained within a relatively narrow concentration range. If the level is too low, the patient may experience a recurrence of symptoms (i.e. seizures, mania, or pain) and if the level is too high, the patient may experience increased toxic side effects. This balance can be difficult to achieve for several different reasons:Oral doses of carbamazepine are absorbed in the stomach and intestine at widely variable rates. Since carbamazepine is metabolised by the liver, anything that affects the function of the liver can affect blood levels of the drug.Much of the drug is bound to proteins in the blood plasma, but it is the free portion of the drug that has the therapeutic effect. Conditions that affect the extent of protein binding of the drug may affect therapeutic effectiveness.The product of carbamazepine metabolism, carbamazepine-10,11 epoxide, is also an active compound and contributes to the overall effect of the medication.Several drugs, if taken in conjunction with carbamazepine, may alter the effect or affect metabolism and blood levels.Dosages of carbamazepine must be adjusted carefully until a steady concentration in the blood is reached. The actual amount of drug required to reach this steady state will vary from person to person and may change over time.Carbamazepine is usually monitored long-term because it is prescribed for chronic conditions which require long-term treatment. Seizure disorders affect the brain’s ability to transmit electrical impulses and to regulate nerve activity. During a seizure, a patient may experience changes in consciousness, alterations in sight, smell, and taste, and may experience convulsions (fits). Seizures are associated with acute conditions, such as high fevers and head trauma, and with chronic conditions such as metabolic disorders and brain tumours. In many cases, the cause is not known. The frequency of seizures varies from a single episode, to occasional seizures, to recurrent seizures. Seizures are categorised by the parts of the brain and body that are affected.  Carbamazepine is prescribed to help prevent specific types of recurrent seizures, particularly those unresponsive to lithium.Bipolar disorder is a psychiatric condition that is characterised by cycles of depression and mania that may last for days, weeks, months, or years. During a depressive episode those affected may feel sad, hopeless, worthless, and have thoughts of suicide. During a manic episode, those affected may be extremely happy and excited, irritable, have poor judgment, and participate in risky behaviour. Carbamazepine is prescribed to help even out the moods of the person with bipolar disorder, especially mania.Trigeminal neuralgia, a condition associated with facial nerve pain and muscle spasms, and paroxysmal choreoathetosis are also sometimes treated with carbamazepine.


Related Tests:
Tumour Markers, CA 19-9, AFP Tumour Marker

Why:
the presence of certain cancers, CEA may be used to monitor the effect of treatment and recurrence of disease

When:
fore starting cancer treatment as well as at intervals during and after therapy

Test General info:
CEA is a protein that is normally not detected in the blood of a healthy person. When certain types of cancer are present, CEA may be produced by the cancer cells. CEA may then be detected in blood, but it will not indicate which kind of cancer is present. CEA is often used to monitor patients with cancers of the gastrointestinal (GI) tract such as colorectal cancer. It may be raised in other cancers, such as ovarian and breast cancers, but can also be raised in benign conditions such as liver disease and inflammatory bowel disease (Crohns disease or ulcerative colitis).


Formal Name:
Cardiac-specific Troponins I and T (cTnI and cTnT); High-sensitivity cardiac-specific Troponins I and T (hs-cTnI and hs-cTnT)

Why:
see if you have had a heart attack or damage to your heart muscle

When:
you are having chest pain that may be due to a heart attack.

Test General info:
Troponins are proteins in muscle fibres that help to regulate muscle contraction. There are three different troponins: skeletal muscle troponin C (TnC) and two heart muscle troponins, cardiac troponin T (cTnT) and cardiac troponin I (cTnI). When there is damage to heart muscle, cTnI and cTnT are released into the blood.


Test Name:
Cardiolipin Antibodies, IgG, IgM, and IgA


Other Names:
T4 count; T-helper cells; T-suppressor cells; cytotoxic T-cells

Formal Name:
CD4 lymphocyte count; CD8 lymphocyte count; T-cell subsets; CD4/CD8 ratio; CD4 percent

Related Tests:
HIV antibody, p24 antigen test, HIV viral load, HIV genotypic resistance testing, HIV phenotypic resistance testing

Why:
st often, this test is done to measure the strength of your immune system if you’ve been diagnosed with HIV infection.  Occasionally it may be used with other conditions.

When:
you’ve been diagnosed with HIV, soon after you are first diagnosed to get a baseline assessment of your immune system; 2-8 weeks after starting anti-HIV therapy and then every three to four months if you continue therapy

Test General info:
CD4 and CD8 cells are lymphocytes that have markers on the surfaces of the cells called CD4 and CD8. They are types of white blood cells that fight infection, and they play an important role in your immune system function.  CD4 and CD8 cells are made in the bone marrow, and are educated in the thymus gland, a small gland found in the upper chest. They circulate throughout the body in the bloodstream, spleen and the lymph nodes.CD4 cells are sometimes called T-helper cells. They help to identify, attack, and destroy specific bacteria, fungi, and viruses that affect the body.  CD4 cells are a major target for HIV, which binds to the surface of CD4 cells, enters them, and either replicates immediately, killing the cells in the process, or remains in a resting state, replicating later. As the HIV virus gets into the cells and replicates, the number of CD4 cells in the blood gradually declines. The CD4 count decreases with HIV disease progression.  This process may continue for several years before the number of CD4 cells drops to a low enough level that symptoms associated with AIDS begin to appear.  As treatment reduces the amount of HIV present in the body and slows progression, the CD4 count will increase and/or stabilize.CD8 cells include lymphocytes that are called cytotoxic T cells and T-suppressor cells [S12].  CD8 cytotoxic T-cells identify and kill cells that have been infected with viruses or that have been affected by cancer.  They play an important role in the immune response to HIV by killing cells infected with the virus and by producing substances that block HIV replication.These tests measure the number of CD4 and CD8 cells in the blood and, in conjunction with an HIV viral load test, assess the status of the immune system if you have been diagnosed with HIV.  As the disease progresses, the number of CD4 cells will decrease in relation to the number of total lymphocytes and CD8 cells.  To provide a clearer picture of the condition of the immune system, the results of these tests may be expressed as a ratio of CD4 to total lymphocytes (percentage) or as a ratio of CD4 cells to CD8 cells.

These tests are most often used to help monitor disease progression in HIV but may also be used occasionally in other conditions such as lymphomas and organ transplantation. (See FAQ #4)


Related Tests:
Glucose; Total Protein; Full Blood Count; Lactate; Protein Electrophoresis; AFB Smear and Culture; Blood Culture; Herpes; Lyme Disease; Rubella; Syphilis; West Nile Virus

Why:
diagnose a disease or condition affecting the central nervous system (CNS) such as bleeding within the brain or skull, cancer, autoimmune disorder or infection

When:
en your doctor suspects that your symptoms are due to a condition or disease involving your central nervous system

Sample Type:
sample of cerebrospinal fluid (CSF) is collected by a doctor from the lower back using a procedure called a lumbar puncture or spinal tap

Test General info:
Cerebrospinal fluid (CSF) is a clear watery liquid filtrate that is formed by the choroid plexus, special tissue that has many blood vessels and lines the small spaces or chambers (ventricles) in the brain. CSF flows around the brain and spinal cord, surrounding and protecting them. CSF is continually produced, circulated, and then absorbed into the blood system. About 500 mL is produced each day. This rate of production means that all of the CSF is replaced every few hours.A protective blood-brain barrier separates the brain from circulating blood and regulates the distribution of substances between the blood and the CSF. The barrier helps keep large molecules, toxins, and most blood cells away from the brain. Any condition that disrupts this protective barrier may result in a change in the normal level or type of constituents of CSF. Because CSF surrounds the brain and spinal cord, testing a sample of CSF can be very valuable in diagnosing a variety of diseases affecting the central nervous system (CNS). Although a sample of CSF may be more difficult to obtain than, for example, urine or blood, the results may reveal more directly the cause of brain-related symptoms.For example, infections and inflammation in the meninges (called meningitis) or the brain (called encephalitis) can disrupt the blood-brain barrier and allow white and red blood cells and increased amounts of protein into the CSF. Meningitis and encephalitis can also lead to the production of antibodies. Immune diseases that affect the CNS, such as Guillain-Barré Syndrome, and multiple sclerosis can also produce antibodies that can be found in the CSF. Cancers such as leukaemia can lead to an increase in CSF white blood cells (WBCs), and cancerous tumours can result in the presence of abnormal cells. These changes from normal CSF constituents make the examination of cerebrospinal fluid valuable as a diagnostic tool.CSF analysis usually involves an initial basic set of tests performed when CSF analysis is requested: CSF colour, clarity and pressure during collection CSF protein CSF glucose CSF cell count CSF differential If infection is suspected, CSF gram stain and culture A wide variety of other tests may be requested as follow-up depending on the results of the first set of tests. The specific tests that are requested may also depend on the signs and symptoms of the patient and the disease the doctor suspects is the cause. Each of these tests can be grouped according to the type of examination that is performed: Physical characteristics —includes measurement of the pressure during sample collection and the appearance of the CSF. Chemical tests —this group refers to those tests that detect or measure the chemical substances found in spinal fluid. CSF is basically an ultafiltrate of the blood (all of the large molecules such as proteins are left in the blood and do not normally pass across into the CSF), so it can also be affected by what is going on in the blood. Normally, certain constituents of CSF such as protein and glucose are a percentage of blood levels, so CSF levels are often evaluated in relation to blood levels. Microscopic examination (Cell count and differential) any cells that may be present are counted and identified by cell type under a microscope. Infectious disease tests —numerous tests can be performed to detect and identify microorganisms if an infection is suspected.


Other Names:
Cervical screening test; Liquid based cytology test (LBC)

Formal Name:
Smear Test; PAP Test; Papanicolaou smear; cervical/vaginal cytology

Related Tests:
Human Papillomavirus (HPV), Trichomonas wet prep

Why:
screen for early abnormalities (pre-cancer) which, if left untreated, could lead to cervical cancer.

When:
England, all woman between the ages of 25 and 64 are eligible for a free cervical screening test every three to five years, depending on age.
In Wales those between 20 and 64 are eligible for screening at 3 yearly intervals.
In Scotland those between 20 and 60 are eligible for screening 3 at yearly intervals.
In Northern Ireland those between 20 and 64 are eligible for screening at 5 yearly intervals.
In the Republic of Ireland those between 25 and 44 are eligible for screening at 3 yearly intervals and those between 45 and 60 at 5 yearly intervals.

Test General info:
A cervical cytology test is a test used to detect abnormal or potentially abnormal cells from the uterine cervix (neck of the womb).


Other Names:
Cystic fibrosis (CF) genotyping; CF DNA analysis; CF gene mutation panel; molecular genetic testing

Related Tests:
Sweat chloride, Immunoreactive trypsin (IRT)

Why:
detect cystic fibrosis (CF) genetic mutations to establish CF carrier status or to establish the diagnosis of CF in an individual

When:
en a newborn baby has no stools in the first 24 to 48 hours of life (meconium ileus) or when a person has symptoms of CF; if a person has a positive sweat chloride or an immunoreactive trypsin test or a close relative who has been diagnosed with CF; or when a patient is undergoing genetic counselling and wants to find out if they are a CF carrier. In addition, high risk carrier couples may have the test prior to in vitro fertilization so that the test can be carried out before implantation.

Test General info:
The CF gene mutation test identifies mutations in the CFTR gene. Each cell in the human body (except sperm and eggs) has 46 chromosomes (23 inherited from the mother and 23 from the father). Genes on these chromosomes form the body`s blueprint for producing proteins that control body functions. Cystic fibrosis is caused by a mutation in a pair of genes located on chromosomes 7. Both copies (alleles) of this gene must be abnormal to cause CF. If only one copy of the gene pair is mutated, the patient will be a carrier. Carriers are not ill, they do not have any symptoms, but they can pass their abnormal CF gene copy on to their children. 

So far, over 1500 different mutations of the chromosome 7 gene have been identified, but only a few of the mutations are common. The majority of CF in the UK is caused by a mutation called deltaF508.

When CF gene mutation testing is done, the laboratory specifically examines the CFTR gene on each chromosome 7 for a number of mutations. If the initial panel of mutations demonstrates a mutation, additional testing for other mutations may be done if the individual is suspected of having the disease.


Related Tests:
Serotonin, 5-HIAA, Catecholamines, Tumour Markers

Why:
help diagnose and monitor carcinoid tumours and other neuroendocrine tumours

When:
en you have symptoms suggestive of a carcinoid tumour such as flushing, diarrhoea, and/or wheezing. When your doctor thinks you may have a carcinoid or other neuroendocrine tumour

Test General info:
This test measures the amount of Chromogranin A (CgA) in the blood. CgA is a protein found in and released from neuroendocrine cells. Neuroendocrine cells, and the endocrine system glands that they are found in, can give rise to a variety of tumours, both benign and malignant. They include carcinoid tumours, phaeochromocytomas, insulinomas, small cell lung cancers, neuroblastomas, and other neuroendocrine tumours. Many of these tumours release large quantities of hormones - such as serotonin, catecholamines, or insulin – continuously or intermittently, causing symptoms characteristic for that tumour. However, some neuroendocrine tumours do not release the expected hormones. In either case, neuroendocrine tumours are frequently associated with increased concentrations of CgA.


Other Names:
Varicella Zoster Virus (VZV); Herpes Zoster

Formal Name:
Varicella Zoster Virus Culture; Varicella Zoster Virus by PCR; Varicella Zoster Virus by DFA; Varicella Zoster Virus Antibodies; IgG and IgM

Why:
your doctor suspects that you have, or have recently had, chickenpox or shingles and a diagnosis is necessary; to show immunity to the varicella zoster virus (VZV) or the potential for re-activating a VZV infection before receiving immunosuppressive drugs

When:
check immune status and/or to find an active infection; sometimes when a person has unusual (atypical) and/or severe symptoms and the doctor wants to distinguish between a VZV infection and another cause; prior to an organ transplant or when pregnant woman, or an immune-compromised person has been exposed to someone with chickenpox

Sample Type:
blood sample is taken from a vein in your arm for VZV antibody testing; to detect the virus itself, a sample of fluid from a blister (vesicle), blood, cerebrospinal fluid, or other body fluid or tissue

Test General info:
Tests for chicken pox and shingles are done to find and diagnose either a current or past infection with the virus (varicella zoster virus (VZV)) that causes these conditions. Most often, testing is not necessary because a diagnosis of active infection can be made by the doctor just from clinical signs and symptoms, but in some patients with an atypical skin disease, a diagnostic test helps to confirm the infection. In organ transplant recipients or pregnant women, the tests may be useful to diagnose a current infection or to determine status of immunity.Varicella zoster virus is a member of the herpes virus family. It is very common and the primary infection is highly contagious, passing from person to person through lung fluids and saliva. VZV causes chickenpox in the young and in adults who have not been previously exposed. Usually, about two weeks after exposure to the virus, an itchy rash occurs, followed by the pimple-like papules that become small, fluid-filled blisters (vesicles). The blisters break, form a crust, and then heal. This process occurs in two or three waves or “crops” of several hundred blisters over a few days.Once the first infection has got better, the virus becomes hidden (latent) in sensory nerve cells. The person develops antibodies during the infection that usually prevent them from getting chickenpox again if infected by the virus. However, later in life and in those with immune systems that are not working properly, VZV can reactivate, moving down the nerve cells to the skin and causing shingles (also known as herpes zoster). Symptoms of shingles include a mild to intense burning or itching pain in a band of skin at the waist, the face, or another location. It is usually in one place on one side of the body but can also occur in several places. Several days after the pain, itching, or tingling begins, a rash, with or without blisters, forms in the same place. In most people, the rash and pain reduces within a few weeks, and the virus again becomes hidden (latent). A few may have pain that lingers for several months.Most cases of chickenpox and shingles get better without complications. In people with compromised immune systems, such as those with HIV/AIDS or those who have had an organ transplant, it can be more severe and long-lasting. In some cases, it may not become latent and may spread to the central nervous system.

In pregnant women, the effects of exposure to VZV on a growing baby or newborn depend on when it occurs and on whether or not the mother has been previously exposed. In the first 20 weeks of pregnancy, a primary VZV infection may, rarely, cause congenital abnormalities in the growing baby. If the infection occurs one to three weeks before delivery, the baby may be born with or acquire chickenpox after birth, although the baby may be partially protected by the mother’s antibodies. If a newborn is exposed to VZV at birth and does not have maternal antibody protection, then the VZV infection can be fatal.


Why:
screen for or diagnose chlamydia infection

When:
you are sexually active and have one or more risk factors for developing chlamydia, or have symptoms of infection e.g. discharge from the vagina or penis.

Test General info:
The test is looking for evidence of infection by the bacterium Chlamydia trachomatis, the most common bacterial sexually transmitted disease (STD) in the United Kingdom.


Why:
determine if there is a problem with your body’s acid-alkali (pH) balance and to monitor treatment

When:
your doctor thinks that you have an electrolyte imbalance

Sample Type:
blood sample taken from a vein in the arm or a urine sample

Test General info:
Chloride is an electrolyte. When combined with sodium it is mostly found in nature as “salt.” Chloride is important in maintaining the normal acid-base balance of the body and, along with sodium, in keeping normal levels of water in the body. Chloride generally increases or decreases in direct relationship to sodium, but may change without any change in sodium when there are problems with too much acid or base in your body. Chloride is taken into the body through food. Most of the chloride is absorbed by the gastrointestinal tract, and the excess is excreted in urine. The normal blood concentration remains steady, with a slight drop after meals (because the stomach produces acid after eating, using chloride from blood).


Related Tests:
Therapeutic drug monitoring, urea, Creatinine, Lipid profile, Liver function tests

Why:
determine the concentration of ciclosporin in your blood in order to establish a dose regime, maintain therapeutic levels, and detect toxic levels

When:
soon as ciclosporin therapy begins, usually daily or 2-3 times a week, and periodically after that as dose is adjusted or maintained

Test General info:
This test measures the amount of ciclosporin in the blood. Ciclosporin is an immunosuppressive drug used to dampen the body’s natural defences. When patients have an organ transplant, their immune system recognizes the new organ as a foreign substance and will begin to attack it just as it would any invasive bacteria or virus. Ciclosporin affects the ability of certain white blood cells in the immune system to respond to this foreign tissue . The transplanted organ then has a better chance of survival and will not be as easily rejected by the patient’s system. Ciclosporin is used routinely in the transplantation of kidney, heart, liver, and other organs.The immunosuppressive qualities of ciclosporin have also been found to be useful in treating symptoms of some autoimmune disease and other disorders. Ciclosporin helps to control the immune response in these cases, decreasing the severity of symptoms. These disorders include rheumatoid arthritis, psoriasis, aplastic anaemia, and Crohn’s disease.When the symptoms in these cases are judged to be severe, extensive, and disabling, ciclosporin may be prescribed. Usually, the symptoms have not responded well to other treatments or medications. Ciclosporin is used with caution in these cases and needs to be carefully monitored with blood tests.Testing ciclosporin levels in the blood can help ensure that drug levels are in a range that will be therapeutic for you. If the level is too low, organ rejection may occur (in the case of transplantation) or symptoms may reappear (autoimmune cases). It is also important to ensure levels are not too high and will not result in toxicity.


Why:
detect and monitor muscle damage and to help diagnose conditions associated with muscle damage

When:
you have muscle pain, tenderness, weakness and swelling after muscle damage, particularly if your urine becomes dark reddish-brown in colour

Test General info:
This test measures the amount of creatine kinase (CK) in the blood. CK is an enzyme found in the heart, brain, skeletal muscle and other tissues. Increased amounts are released into the bloodstream when there is muscle damage. CK occurs in three major forms, called isoenzymes:CK-MB (found mostly in heart muscle) CK-BB (found mostly in brain) CK-MM (found in muscles)


When:
you have chest pain and troponin test is not available

Test General info:
Creatine kinase (CK) is an enzyme that occurs in three major forms, called isoenzymes:CK-MB (found mostly in heart muscle) CK-BB (found mostly in brain) CK-MM (found in muscles)CK–MB rises when there is any damage to heart muscle cells.


Related Tests:
Epstein Barr Virus (EBV); Herpes Simplex Virus; Varicella Zoster Virus (VZV); TORCH

Why:
your doctor suspects you presently have, or recently had, a cytomegalovirus (CMV) infection or if it is important to know if you have ever had a CMV infection – such as prior to receiving an organ transplant

When:
en a young adult, a pregnant female, or an immune-compromised patient has typical symptoms that suggest a CMV infection (tiredness, fever, jaundice); when a newborn has multiple congenital anomalies, unexplained jaundice or anaemia, and/or when an infant has seizures or developmental problems that may be due to CMV

Sample Type:
blood sample taken from a vein in your arm for CMV antibody testing; to detect the virus itself, sample may be blood, urine, or sputum, amniotic fluid, cerebrospinal fluid (CSF), duodenal fluid, or other body tissue

Test General info:
Cytomegalovirus (CMV) testing is requested to determine whether someone is currently, or has recently been, infected with CMV. It may also sometimes be used to determine whether someone has ever been exposed to CMV. Testing for CMV involves either a measurement of CMV antibodies (immune proteins created in response to CMV exposure) or by the detection of the virus itself. The virus is detected during an active infection by detecting the genetic material of the virus (its DNA).In the United Kingdom, as many as 50% to 85% of adults have been infected with CMV. Most people are infected as children or young adults and do not experience any significant symptoms or health problems, but the most common symptoms are fever, tiredness and jaundice. CMV is found in many body fluids during an active infection, including saliva, urine, blood, breast milk, semen, cervical secretions, and cerebrospinal fluid. It is easily transmitted to others through sexual contact and sharing saliva or by contact with infected objects, such as nappies or toys. After the initial “primary” infection has resolved, CMV becomes dormant or latent - like other members of the herpes family. Cytomegalovirus remains in a patient for the rest of their life without causing any symptoms, unless the virus reactivates when a patient’s immune system is compromised.CMV can cause problems in three areas:In young adults, the initial primary CMV infection may cause an illness characterised by fever, tiredness or jaundice; it usually resolves within a few weeks but can cause prolonged illness with fever and sweating. In infants, primary CMV infection may cause serious physical and developmental problems when women are first infected during pregnancy and then pass the infection to infants across the placental barrier. Most foetuses (about 90%) that are infected appear perfectly normal at birth but may develop hearing or vision problems, pneumonia, seizures, and/or delayed mental development a few months later. A few babies may be stillborn, while others may have symptoms at birth such as jaundice, anaemia, an enlarged spleen or liver, and a small head. Some of these signs and symptoms will resolve with time, but others may persist.In those with compromised immune systems, CMV may cause serious illness and death. This includes those with HIV/AIDS, those who have had organ or bone marrow transplants, and those undergoing chemotherapy treatment for cancer. Patients with compromised immune systems who become infected for the first time may experience more severe symptoms, and the CMV infection may remain active. Those who have been exposed to CMV previously may reactivate their infection. This may affect their eyes (causing inflammation of the retina, which can lead to blindness), gastrointestinal tract (causing bloody diarrhoea and abdominal pain), lungs (causing pneumonia with a non-productive cough and shortness of breath), and brain (causing encephalitis). There can also be spleen and liver involvement, and those who have had organ or bone marrow transplants may experience some degree of rejection. Active CMV also further depresses the immune system, allowing other secondary infections, such as fungal infections, to occur.


Related Tests:
FBC, ESR, CRP, Calcium, Total Protein, Albumin, Vitamin D, Vitamin B12, Vitamin E, Iron, Folate, Anti-Endomysial Antibodies (EMA), Anti-tissue Transglutaminase Antibody (TTG)

Why:
help in making a diagnosis of coeliac disease, and also to assess the effectiveness and degree of adherence to a gluten-free diet

When:
tients who have symptoms suggestive of coeliac disease should be tested. These symptoms may include, for example:chronic diarrhoeaabdominal painweight lossanaemiapoor growth or chronic irritability in an infant or childPatients with known coeliac disease may be tested by their doctor to help assess the effectiveness and observance of a gluten-free diet.

Test General info:
Coeliac antibody tests help in the diagnosis of coeliac disease, and also can help to rule out this diagnosis. These tests detect autoantibodies that the body creates as part of an immune response to dietary proteins (such as gluten) found in wheat, rye, and barley. These autoantibodies are involved in inflammation in the gut and damage to the lining of the gut wall. This damage results in symptoms associated with malnutrition and malabsorption, such asabdominal painabdominal bloating/distensionchronic diarrhoeaweight lossoral ulcerationweaknessfatigueanaemiableeding tendencybone and joint painirritability and delayed growth and development in infants & childrenPatients with coeliac disease will not typically have all of these symptoms, but may have a selection from this list. None of these symptoms are diagnostic of coeliac disease, as they can be found in other (gut) conditions.A number of autoantibodies not normally present in the blood may be detected in sufferers of this condition: Anti-tissue Transglutaminase Antibody (TTG), IgA: Tissue transglutaminase is an enzyme responsible for crosslinking (joining) certain proteins, and is found in the gut as well as in other tissues. It has been identified as the target molecule for the anti-endomysial antibodies. Although `tissue` is in the name of this autoantibody, it nevertheless involves testing blood and not tissue.Anti-Endomysial Antibodies (EMA): Endomysium is the thin connective tissue layer that covers individual muscle fibres. Anti-endomysial antibodies develop as part of the ongoing damage to the intestinal lining.Anti-gliadin and anti-reticulin antibodies are autoantibodies that have been used to evaluate suspected celiac disease in the past. However these tests have both been superceded by anti-EMA and anti-TTG antibodies and are no longer used in the UK.There are 5 types of antibody (IgG, IgA, IgM, IgD and IgE) in the body. Both IgG and IgA types of each autoantibody will often be present in the blood, and may be tested for. In many laboratories IgA antibodies are used as the first line test for coeliac disease, with other antibody tests being performed only when required. 

In the past, the only way to diagnose coeliac disease was to take a biopsy (small piece of tissue) from the small intestine and to examine it under the microscope. This method is still used to confirm a diagnosis of coeliac disease, but the availability of less invasive blood tests used to screen for coeliac disease has reduced the number of biopsies required for this purpose.


Why:
help detect and to monitor prostate cancer

When:
you have symptoms of prostate disease, such as difficulty in passing urine, or passing urine more frequently than usual

Test General info:
Blood is being tested for the level of PSA it contains. PSA is a protein produced mainly by cells in the prostate gland and can be a useful indicator of prostate cancer. This protein can be found in all males; however, men whose levels are increased may have an infection of the prostate gland (prostatitis), prostate enlargement or prostate cancer. In blood, PSA is present both as free PSA and as complexed PSA bound to other blood proteins. The free PSA test measures the percentage of the total PSA that is not bound to proteins in the patient’s blood.


Other Names:
Cu, 24-hour urine copper; Total copper; Non-caeruloplasmin-bound copper; Free copper; Hepatic copper

Formal Name:
Copper (24-hour urine, total and free blood, and hepatic)

Why:
measure the amount of copper in the blood, urine, or liver; to help diagnose and monitor Wilson’s disease; sometimes to identify copper deficiencies and excesses

When:
en you have jaundice, fatigue, abdominal pain, behavioural changes, tremor, or other symptoms that your doctor thinks may be due to Wilson’s disease or, rarely, to copper deficiency or excess; at intervals when you are being treated for a copper-related condition

Sample Type:
blood sample taken from a vein in your arm and/or a 24-hour urine sample; sometimes a liver biopsy sample

Test General info:
This test measures the amount of copper in the blood, urine, or liver (hepatic). Copper is an essential mineral that the body incorporates into enzymes. These enzymes play a role in the regulation of iron metabolism, formation of connective tissue, energy production at the cellular level, the creation of melanin, and the function of the nervous system and brain.Copper is found in many foods including nuts, chocolate, mushrooms, shellfish, whole grains, dried fruits, and liver. Drinking water may acquire copper as it flows through copper pipes, and food may acquire it when people cook or serve food in copper dishes. Normally, the body absorbs copper from the intestines, makes it non-toxic by binding it to a protein, and transports it to the liver. The liver stores some of the copper and binds most of the rest to a protein called apocaeruloplasmin that, when copper is attached, becomes the enzyme caeruloplasmin. About 95% of the copper in the blood is bound to caeruloplasmin. The liver excretes excess copper into the bile and it is removed from the body in the stool. Some copper is also excreted in the urine.Both excesses and deficiencies of copper are rare. Wilson’s disease, an inherited disorder, can lead to excess storage of copper in the liver, brain, and other organs. This can cause tissue damage and signs and symptoms such as:anaemia nausea, abdominal pain jaundice fatigue behavioural changes tremor difficulty walking and/or swallowing dystonia If the kidneys are involved, then urine production may be decreased or absent. Some of these symptoms may also be seen with copper poisoning that is due to acute or chronic environmental exposure to copper or due to conditions such as liver disease or obstructions that prevent or inhibit copper metabolism and excretion. Copper deficiencies may occasionally occur in patients who have conditions associated with severe malabsorption, such as cystic fibrosis and coeliac disease, and in infants exclusively fed cow-milk formulas. Symptoms may include neutropenia, osteoporosis, and microcytic anaemia. A rare X-linked genetic condition called Menkes kinky hair syndrome leads to copper deficiencies in the brain and liver of affected infants. The disease, which affects primarily males, is associated with seizures, delayed development, abnormal artery development in the brain, and unusual grey brittle kinky hair.


Other Names:
Retic Count; Reticulocyte Index; Corrected Reticulocyte

Related Tests:
Red blood cell count; Haemoglobin; Haematocrit; FBC; Blood film; Erythropoietin

Why:
help evaluate the bone marrow`s ability to produce red blood cells (RBCs) and to help distinguish between anaemia related to blood loss or destruction and anaemia related to decreased RBC production; to help monitor bone marrow response and the return of

When:
en you have a decreased (or increased) RBC count, haemoglobin, and haematocrit and your doctor wants to evaluate bone marrow function

Sample Type:
blood sample obtained by inserting a needle into a vein in the arm or sometimes from pricking a finger or the heel of an infant

Test General info:
Reticulocytes are immature red blood cells (RBCs). They are produced in the bone marrow when stem cells differentiate and progress toward RBC development, eventually forming reticulocytes and finally mature RBCs. Most RBCs are fully mature before they are released from the bone marrow into the blood, but about 0.5 – 2% of the RBCs in circulation will be reticulocytes. This test measures the number and percentage of reticulocytes in the blood and serves as an indicator of the adequacy of bone marrow red blood cell (RBC) production.

Normal RBCs have a lifespan of about 120 days. The body attempts to maintain a stable number of RBCs in circulation by continually removing old RBCs and producing new ones in the bone marrow. If this steady state is disrupted by an increased loss of RBCs or by decreased production, then anaemia will develop. Increased loss of red blood cells may be due to severe and short term (acute) or chronic bleeding haemorrhage) or haemolysis. The body compensates for this loss by increasing the rate of RBC production. When this happens, the number and percentage of reticulocytes in the blood increases until a sufficient number of RBCs is present and the balance is restored or until the production capacity of the marrow is reached.

Decreased RBC production may occur when the bone marrow is not functioning normally, due to a bone marrow disorder such as aplastic anaemia or due to marrow suppression from a variety of causes including radiation and chemotherapy treatments for cancer, because of insufficient erythropoietin, or because of deficiencies in certain nutrients such as iron, vitamin B12, or folate. This decreased production leads to fewer RBCs in circulation, decreased haemoglobin and oxygen-carrying capacity, a lower  haematocrit, and to a reduction in the number of reticulocytes as old RBCs are removed from the bloodstream, but not fully replaced.

Occasionally, both the reticulocyte count and the  RBC count will be increased because of excess RBC production. This may be due to a variety of causes including inappropriately increased production of erythropoietin, disorders that chronically produce increased numbers of RBCs (polycythemia vera), and cigarette smoking.


Other Names:
Serum Cortisol, Urine Cortisol, Urinary Free Cortisol, Salivary Cortisol

Related Tests:
ACTH, Aldosterone, Synacthen stimulation test, Dexamethasone Suppression Test

Why:
help diagnose Cushing’s syndrome or Addison’s disease (primary adrenal insufficiency) or secondary adrenal insufficiency.

When:
your doctor suspects damage to the adrenal gland, or any condition that could result in the body producing too much cortisol

Sample Type:
blood sample taken from a vein in the arm or a 24 hour urine sample. Occasionally a saliva sample may be tested.

Test General info:
Cortisol is a steroid hormone, produced by the adrenal gland, which is essential for survival. Production and secretion of cortisol is stimulated by ACTH (adrenocorticotropic hormone), a hormone produced by the pituitary gland – a tiny organ located inside the head below the brain. The concentration of cortisol in the blood increases during times of stress, and it also helps regulate the immune system. Heat, cold, infection, trauma, exercise, obesity, and debilitating disease influence cortisol secretion. The hormone is secreted in a daily pattern, rising in the early morning, peaking around 8 a.m., and declining in the evening. This pattern, a “diurnal variation” or “circadian rhythm,” can change in long term night shift workers.Inadequate concentrations of cortisol within the blood can cause nonspecific symptoms such as weight loss, muscle weakness, fatigue, low blood pressure or abdominal pain and exposure to stress can cause an adrenal crisis that requires immediate medical attention. Decreased cortisol production may be seen with:An underactive pituitary gland or a pituitary gland tumour that inhibits ACTH production. This is known as secondary adrenal insufficiency.Underactive or damaged adrenal glands (adrenal insufficiency) that limit cortisol production. This is referred to as primary adrenal insufficiency and is also known as Addison’s disease.Too much cortisol within the bloodstream can cause increased blood pressure, high blood sugar (glucose) concentrations, obesity, fragile skin, purple streaks on the tummy, muscle weakness, and osteoporosis. Women may have irregular menstrual periods and increased hair on the face; children may have delayed development and a short stature.Increased cortisol production may be seen with:ACTH-producing tumours, in the pituitary gland and/or in other parts of the bodyIncreased production by the adrenal glands, due to a tumour or due to excessive growth of adrenal tissues (hyperplasia)


Related Tests:
Urea; GFR and eGFR; creatinine clearance; Urinalysis

Why:
determine if your kidneys work normally and to monitor treatment for kidney disease

When:
part of a routine blood test if you have non-specific health complaints or if your doctor thinks that you may have kidney disease; at intervals to monitor treatment for kidney disease or kidney function while on certain medicines

Sample Type:
blood sample taken from a vein in the arm and/or a 24-hour urine sample

Test General info:
This test measures the amount of creatinine in your blood and/or urine. Creatinine is a waste product produced in your muscles from the breakdown of a compound called creatine. Creatine is part of the cycle that produces energy needed to contract your muscles. Both creatine and creatinine are produced by the body at a relatively constant rate. Almost all creatinine is excreted by the kidneys, so blood levels are a good measure of how well your kidneys are working. The quantity produced depends on the size of the person and their muscle mass. For this reason, creatinine concentrations will be slightly higher in men than in women and children.

Results from a blood creatinine test and a 24-hour urine creatinine test may be used to calculate creatinine clearance.


Related Tests:
Creatinine; glomerular filtration rate (GFR); Urinalysis

Why:
help detect and evaluate kidney dysfunction or decreased blood flow to the kidneys

When:
your doctor thinks that you may have a problem affecting the function of your kidneys, such as an obstruction within the kidney, acute or chronic kidney failure, dehydration, shock, or another disease, such as congestive heart failure. Creatinine clearance may also be measured before you are prescribed certain drugs which rely on good kidney function in order to allow the drugs to be removed from the body effectively after they have carried out their purpose. Other straightforward methods of estimating the function of your kidneys now in routine use across the UK include the calculation of estimated glomerular function rate (eGFR) from a single blood sample taken from a vein in your arm.

Sample Type:
th a urine sample (24-hour collection) and a blood sample taken from a vein in your arm.

Test General info:
This test measures the concentration of creatinine in both a sample of blood and a sample of urine from a 24-hour urine collection. The results are used to calculate the amount of creatinine that has been cleared from the blood and passed into the urine. This calculation allows for a general evaluation of the amount of blood that is being filtered by the kidneys in a 24-hour time period.Creatinine is a chemical derived from creatine, a nitrogen-based organic compound used by muscles to store and transfer energy. The amount of creatinine produced in the body is dependent on muscle mass and is relatively constant for an individual.Almost all creatinine is removed from the body as blood passes through the kidneys. The amount of creatinine removed from the blood depends on both the filtering ability of the glomeruli in the kidneys and the rate at which blood is carried to the kidneys.The amount of blood filtered per minute is known as the Glomerular Filtration Rate (GFR). If the glomeruli are damaged or diseased, or if blood circulation is slowed, then less creatinine will be removed from the blood and released into the urine and the GFR will be decreased. By measuring creatinine in the blood and in the urine, it is possible to determine the amount of blood filtered by the kidneys in a measured period of time. A calculation is made based on the amount of creatinine in the urine, the time period of collection, and the amount of creatinine in the blood.Since the amount of creatinine produced depends on muscle mass, in some circumstances, e.g. in children, the calculation will need to be corrected for body surface area.


Other Names:
Fragment D-dimer; Cross-linked fibrin degradation product (XDP)

Related Tests:
Fibrin Degradation Product (FDP); Prothrombin Time (PT); Partial Thromboplastin Time (aPTT, or PTT); Fibrinogen; Platelet Count

Why:
help diagnose or exclude thrombotic (blood clot producing) or bleeding diseases and conditions.

When:
en you have symptoms of a disease or condition that causes acute and/or chronic inappropriate blood clot formation such as: DVT (Deep Vein Thrombosis), PE (Pulmonary Embolism), or DIC (Disseminated Intravascular Coagulation), and to monitor the progress and treatment of DIC and other thrombotic conditions.

Test General info:
When a vein or artery is injured and begins to leak blood, a sequence of clotting steps and factors (called the coagulation cascade) is activated by the body to limit bleeding and create a blood clot to plug the hole.  During this process, threads of a protein called fibrin are produced.  These threads are cross-linked (glued together by a protein called thrombin) to form a fibrin net that catches platelets and helps hold the forming blood clot together at the site of the injury. 

Once the area has had time to heal, the body uses a protein called plasmin to break the clot (thrombus) into small pieces so that it can be removed.  The fragments of the disintegrating clot are called fibrin degradation products (FDP).  One of the FDPs produced is D-dimer, which consists of variously sized pieces of cross-linked fibrin.  D-dimer is normally undetectable in the blood and is produced only after a clot has formed and is in the process of being broken down.

The main use of D-Dimer is in excluding venous blood clots as a cause for symptoms in the legs or lungs – it has something called `negative predictive value`. If your D-dimer result is negative it is extremely unlikely you have a significant venous blood clot. D-dimer has no `positive predictive value` – it is raised in many conditions and does not help to narrow down a differential diagnosis if positive.


Related Tests:
Lipid profile; Cardiac risk assessment; CRPWere you looking for the CRP test, used to evaluate general inflammation?

Why:
y be used to predict your risk of developing heart disease

When:
en risk factors for heart and blood vessel disease are present as part of cardiac risk assessment; currently most testing is done in research settings only

Test General info:
C-reactive protein (CRP) is a protein in the blood that increases when inflammation is present. CRP has been used for many years as an indicator of infection and inflammation associated with disease. Doctors now believe that atherosclerosis (fatty build-up in artery walls, also called `hardening of the arteries`) is also an inflammatory process. However, the inflammation from atherosclerosis is a low level of long-term inflammation that produces only small amounts of CRP. Therefore, the test requires higher sensitivity than previous tests in order to detect the small increases of CRP. Thus, this test is known as high-sensitivity CRP or hs-CRP.


Related Tests:
Protein Electrophoresis; Hepatitis C, Complement C4 levels, rheumatoid factor

Why:
determine if symptoms like sensitivity of extremities to cold is due to the presence of abnormal proteins called cryoglobulins in the blood

When:
en a person has symptoms such as a rash, bruising, pain, weakness, joint pain, and/or paleness and coolness of the extremities that occur at cold temperatures

Sample Type:
blood sample taken from a vein in your arm, kept at body temperature until tested in the laboratory.

Test General info:
This test detects and measures the relative quantity of cryoglobulins in the blood. Cryoglobulins are circulating proteins, specifically, immunoglobulins, (i.e., IgG, IgM, IgA) that clump together (precipitate) when they are exposed to cold and dissolve when warmed. They may be present in small quantities in the blood of some healthy people but do not cause disease. In affected individuals they are most frequently associated with abnormal protein production and numerous diseases and conditions.Precipitated cryoglobulins can slow the flow of blood and block small blood vessels. The presence of large amounts of cryoglobulins in the blood, called cryoglobulinemia can cause symptoms such as bruising, rashes, joint pain, weakness, and Raynaud`s phenomenon – pain, paleness, bluing, numbness, tingling and coldness in the fingers with exposure to cold. Cryoglobulins can cause tissue damage that leads to skin ulcers and in severe cases to gangrene. They can activate the immune system, leading to the deposit of immune complexes in tissues, and cause inflammation, bleeding, and clotting that can affect circulation in organs such as the kidneys and liver.Cryoglobulins may be seen with a variety of conditions, including infections such as Lyme disease, infectious mononucleosis (mono), hepatitis C, and HIV/AIDS, kidney disease, autoimmune diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis, and Sjögren syndrome, lymphoproliferative diseases such as multiple myeloma, lymphoma and lymphoid leukemia, and disorders associated with inflammation of blood vessels (vasculitis) such as Wegener`s granulomatosis. Cryoglobulins are not specific for or diagnostic of any of these conditions but are one of the signs associated with them.There are three types of cryoglobulins:Type I, which consists of a monoclonal immunoglobulin – a single type of protein that is produced by one abnormal cell or clone. This type is often seen in patients with myeloma or lymphoma.Type II, which consists of a mixture of monoclonal and polyclonal immunoglobulins. This type is often seen in patients with hepatitis C or other viral infections.Type III, which consists of polyclonal immunoglobulins. This type is often seen in patients with autoimmune diseases.Initial testing does not distinguish between these three types of cryoglobulins, but the proteins involved can be determined through subsequent protein electrophoresis testing. For accurate diagnosis, it is important that the type of cryoglobulin is determined.Cryoglobulin testing involves collecting a blood sample in a prewarmed tube and keeping the sample at or near body temperature during test preparation. The person`s serum is then refrigerated for 72 hours and examined daily for precipitates. After 72 hours, if precipitates are found to be present, then the quantity is estimated and the sample is warmed to determine whether the precipitates dissolve. If they do, then cryoglobulins are present.


Why:
diagnose a urinary tract infection (UTI)

When:
you experience symptoms of a UTI, such as pain during urination

Test General info:
Urine is one of the body’s waste products. It is produced in the kidneys and collected in the bladder until a person urinates. Normally, the urine does not contain significant numbers of any microorganism. However, if bacteria or yeast are introduced into the urinary tract, they can multiply and cause a urinary tract infection, called a UTI. 

Most UTIs are caused by Escherichia coli (E. coli), one of the most common human bacteria. Other frequently identified bacteria are Proteus, Klebsiella, and Staphylococcus saprophyticus.


Related Tests:
Gram Stain, Susceptibility Testing, AFB Smear and Culture, Blood Culture, Fungal Tests, FBC

Why:
detect and identify the cause of bacterial pneumonia and other lower respiratory tract infections; to monitor the effectiveness of treatment

When:
en you have symptoms associated with a lower respiratory tract infection; when you have been treated for bacterial pneumonia

Sample Type:
fresh sputum sample (deep respiratory secretions, not saliva), usually collected first thing in the morning

Test General info:
Sputum cultures detect the presence of disease-causing bacteria in those who have bacterial pneumonia and other lower respiratory tract infections. Bacteria in the sample are identified and their susceptibility to various antibiotics is assessed to help choose the most appropriate antibiotic (antimicrobial) treatment.

Sputum is the thick mucus or phlegm that is coughed up from the lower respiratory tract (bronchi and lungs); it is not saliva or spit. Care must be taken in the sample collection process to ensure that the sample is from the lower airways and not the upper respiratory tract. If a sample is mostly saliva, the microorganisms grown in culture will not necessarily be those causing the infection. Furthermore, the presence of saliva and bacteria from the mouth in a sputum sample make it more difficult to identify disease-causing bacteria in the lungs. 

The first step in the analysis of a fresh sputum sample is a Gram stain test to identify the general type of bacteria that may be present and check that the sample adequate. If a sample contains a lot of normal cells that line the mouth (squamous epithelial cells), then the sample is not adequate for culture and a re-collection of the sample may be required. If the sample contains mainly white blood cells from the body’s response to an infection, then the sample is adequate for culturing. 

Once a sputum sample has been accepted, it is placed on or in appropriate nutrient media and incubated under special conditions. The media encourages bacteria to grow which allows further testing and identification. Sputum is not normally free of bacteria, so when a person has a bacterial respiratory infection, there will typically be both normal and disease-causing bacteria present.

The next step is to identify the different types of bacteria present and categorise them as normal or potential disease-causing bacteria. Identification is a step-by-step process that may involve several biochemical tests and observations of how the bacteria grow. 

`Antimicrobial susceptibility testing’ is frequently used to identified disease causing-bacteria and find out whether they are likely to respond to particular antibiotics. 

The sputum culture, Gram stain(s), and susceptibility testing all contribute to helping the doctor find out what has caused the infection and what antibiotic might be used to teat it. 

Some infectious agents cannot be grown and identified with a routine bacterial sputum culture, so that other tests, such as an AFB smear and culture, fungal culture, or viral PCR testing, may be requested in addition to or instead of a routine culture.


Related Tests:
Creatinine, Creatinine Clearance, Calculated Creatinine Clearance, urea, Estimated Glomerular Filtration Rate (eGFR)

Why:
statin C measurement is becoming more widely available in the UK to assess kidney function. It is particularly helpful in situations where measurements of creatinine (the commonest way of assessing kidney function) are misleading or difficult to interpret

When:
can be useful if you have symptoms of kidney disease and/or have a disease or condition that is known to affect kidney function

Test General info:
Cystatin C is a small protein that is produced by all cells that contain a nucleus (i.e. the majority of cells in the body). In healthy people, it is produced and destroyed at a constant rate and is found in a variety of body fluids such as blood, spinal fluid, and breast milk. Cystatin C is filtered out of the blood by the glomeruli which are clusters of tiny blood vessels in the kidneys that allow water and dissolved substances and wastes to pass through their walls while retaining blood cells and larger proteins. What passes through the walls of the glomeruli forms a filtrate fluid. The rate at which this fluid is formed is called the Glomerular Filtration Rate (GFR), which is an important determinant of kidney function. The proximal tubules of the kidneys reabsorb cystatin C, glucose, and other substances. The remaining fluid and wastes are carried to the bladder and excreted as urine. The reabsorbed cystatin C is broken down in the tubular cells and is not returned to the bloodstream. Decreases in kidney function lead to decreases in the GFR, and to increases in cystatin C and waste products in the blood. Rarely, high blood concentrations of cystatin C are the result of increased production by cells rather than a kidney problem, for example in people with an overactive thyroid or with some cancers. Because cystatin C concentrations fluctuate with changes in GFR, the cystatin C test can be used to evaluate kidney function and estimate the GFR. Tests more commonly used include creatinine, a by-product of muscle metabolism that is measured in the blood and urine, and urea, a by-product of protein breakdown. Urea is the least reliable of these tests as it is affected by diet and many other diseases, not just kidney dysfunction. Unlike creatinine, cystatin C concentration is not significantly affected by muscle mass or the amount of meat eaten in the preceding 12 hours and is less affected by age, race and gender. In people with very high or low muscle bulk, estimates of GFR based on measurements of creatinine concentration will not be reliable, in contrast to those based on cystatin C.When the kidneys are functioning normally, concentrations of cystatin C in the blood are stable, but as kidney function deteriorates, the concentrations begin to rise, often before those of creatinine. This increase occurs as the GFR falls and is usually detectable before there are any symptoms of kidney disease.Creatinine and cystatin C can be used alone or in combination to calculate an estimated GFR. The calculations include factors such as age and gender as well as the measured concentrations of the substances. The estimated GFR is a more accurate measure of kidney function than the blood concentrations of cystatin C or creatinine alone.In the UK, the National Institute for Health and Care excellence (NICE) recommends testing patients in whom an estimated GFR based on measurement of blood creatinine is borderline low and there is no other evidence of kidney disease. If the estimated GFR is normal using a cystatin C based equation, further monitoring for kidney disease is not required.


Related Tests:
Stool Culture; Giardia; Cryptosporidium; Entamoeba Histolytica antigen tests

Why:
determine whether you have a parasite infecting your gastrointestinal tract.

When:
en you have diarrhoea that lasts more than a few days and/or have blood or mucous in your loose stools, especially if you have drunk stream or lake water while camping or have travelled outside of the United Kingdom.

Test General info:
An ova, cysts and parasite (OCP) exam is a microscopic evaluation of a stool sample. It is used to look for parasites that have infected the gastrointestinal tract. These parasites and their ova (eggs, cyst form) are shed - passed out of the body through the faeces. When thin smears of stool are put onto glass slides and put through a staining process, the parasites and ova can be detected and identified under the microscope. Different ova and parasites have different shapes, sizes, and internal structures that are characteristic of their species.

There are a wide variety of parasites that can infect humans. Each type of parasite has a particular life cycle (maturation process) and a place that it is adapted to live in. Some spend time in an intermediate host (such as a sheep, cow, or snail) before infecting humans, some infect humans “by accident”, and some are not picky about who or what they infect. Most parasites have an adult form and a cyst/egg/ova form. Some also mature through a larval phase. Those parasites that infect the gastrointestinal tract are passed out of the body through the faeces. The parasite ova are hardy, they can exist in the environment for some time without a host.Most people who are infected by parasites become infected by drinking water or eating food that has been contaminated with the ova. This contamination cannot be seen - the food and water will look, smell, and taste completely normal. Since an infected person’s stool is also infectious, without careful hygiene (handwashing and care with food preparation) they may pass the infection on to others. This is especially a concern with infants at day care centres and the elderly in nursing homes. Not only is a parasitic infection easily passed in these populations, but also the immune systems of those infected may be less effective at getting rid of the infection. The most common parasites are three single cell parasites: Giardia lamblia, Entamoeba histolytica (E. histolytica), and Cryptosporidium parvum. They are found in mountain streams and lakes throughout the world and may infect swimming pools, hot tubs, and occasionally community water supplies. Cryptosporidium (called crypto), resists chlorine and can live for several days in swimming pools. They can be removed from the water supply, however, with adequate filtration. Most parasitic infections in the UK are due to these parasites, but other more worm-like parasites such as a roundworms or tapeworms do occasionally cause infections. Those that travel outside the UK, especially to developing nations, may be exposed to a much wider variety of parasites. In warm climates and places where water and sewage treatment are less effective, parasites are often much more prevalent. Besides giardia, crypto, and E. histolytica, there are also a wide range of flat worms, roundworms, hookworms, and flukes. Visitors usually become infected by eating or drinking something that has been contaminated with the parasites’ ova (even something as simple as ice cubes in a drink, or a fresh salad) but some of the parasites can also penetrate the skin. The most common symptoms of a parasitic infection are prolonged diarrhoea, bloody diarrhoea, mucous in stool, abdominal pain, and nausea. Patients may also have headaches and fever, and will sometimes have few, or no noticeable symptoms.


